GeneBe

net.genebe由 genebe.net 發布官方發布者v0.1.0更新於 Oct 26, 2026

Annotate and classify human genetic variants with GeneBe (ACMG, gnomAD, ClinVar). Research use only.

已驗證Streamable HTTP可網頁執行資料與分析AI 與機器學習

概覽

AI 產生的概覽

遠端 GeneBe 伺服器,讓助理以 ACMG 標準、gnomAD 頻率、ClinVar 與預測器評分註解並分類人類基因變異。

可以做什麼
  • 註解並分類單一變異:ACMG 結論與分數、判準、gnomAD 頻率、預測器評分、ClinVar 與後果
  • 逐步說明每條 ACMG 判準為何適用或不適用,並以決策樹呈現
  • 把 HGVS、rsID 或 SPDI 寫法轉換為正規化的 hg38 座標
  • 列出各轉錄本上的後果,含 HGVS c./p. 與影響程度
  • 查詢基因:識別碼、位置、MANE Select 轉錄本與 ClinGen 基因-疾病有效性
  • 在 hg19、hg38 與 t2t 之間轉換位置、區間或變異
適用情境
當使用者詢問某個具體人類變異或基因,且希望助理依據資料而非記憶作答時適用:變異是什麼、是否致病或良性、族群頻率多高,或為何被如此分類。
執行需求
需要一個以 Streamable HTTP 提供的遠端 MCP 端點;不需註冊、API 金鑰或環境變數。任何支援遠端 HTTP 伺服器的 MCP 用戶端皆可連線,並需能存取該託管服務的網路。
安裝前請注意
僅供研究使用:它不是醫療器材,也不構成診斷,任何臨床使用前須由合格專業人員複核分類結果。變異輸入會傳送給第三方託管服務,其結果綜合 GeneBe、gnomAD、ClinVar、UniProt、ClinGen 與 dbNSFP 資料,再散布前請確認各資料來源的授權條款。工具被描述為唯讀且僅限單一變異,不涉及病患資料、VCF 檔案或樣本。

安裝

在 SourceWeft 中

  1. 開啟 儀表板中的 GeneBe,將其新增到工作區。
  2. 為需要使用其工具的對話啟用該服務。

Web executable,透過 Streamable HTTP。 遠端服務在工作區中設定後即可從網頁執行環境執行。

交給代理程式安裝

把這段提示詞貼上到 Claude Code、Codex、Cursor 等代理程式,或 SourceWeft 對話中。代理程式會讀取該伺服器的安裝指南,先向你展示發布者、端點和登入方式,經你同意後再把它新增到你的客戶端。金鑰不會寫進任何命令。

閱讀 https://sourceweft.com/mcp/net.genebe%2Fgenebe-mcp/install.md,並按其中說明把這個 MCP 伺服器接入我的客戶端。修改任何設定之前,先告訴我它的發布者、端點和登入方式,等我確認。不要把 API 金鑰寫進命令或我會提交的檔案;問我金鑰應從哪裡取得。

檢視代理程式所依據的安裝指南

其他 MCP 客戶端

把它新增到你客戶端的 mcpServers 設定中。

{
  "mcpServers": {
    "genebe": {
      "type": "http",
      "url": "https://mcp.genebe.net/v1/mcp"
    }
  }
}

README

🧬 GeneBe MCP

Give your AI assistant real variant-interpretation data instead of guesses.

Annotate and classify human genetic variants (ACMG, gnomAD, ClinVar, in-silico predictors) from Claude, Cursor, VS Code and any other MCP client, powered by GeneBe.

[License: MIT] [Transport] [Read only] [No account] [Research use only]

https://mcp.genebe.net/v1/mcp


Why

Language models are bad at remembering the clinical status of a specific variant. They sound confident and are often wrong. GeneBe MCP lets the assistant look the variant up and answer from data: a transparent, points-based ACMG classification with every criterion explained, together with population frequencies, predictor scores, ClinVar and transcript consequences.

"Is NM_005577.4:c.4195A>C benign?"
"What is chr6-160585140-T-G? Explain why it is classified that way."
"Convert rs41272110 to hg38 and list its consequences on each transcript."

For example, chr6-160585140-T-G (rs41272110, LPA) comes back as Benign, −9 points with criteria BA1 and BP4, plus the data behind them and a link to the GeneBe page.

What you get

  • Any notation in: genomic coordinates, HGVS, rsID or SPDI; hg19, hg38 and T2T supported through liftover.
  • Verdict you can audit: ACMG classification with points and the reasoning for each criterion, not a black-box label.
  • Evidence in one call: gnomAD frequencies, in-silico predictors, ClinVar, per-transcript consequences (HGVS c./p., impact), gene details with MANE Select and ClinGen gene–disease validity.
  • Compact answers: large lists are capped, so one call costs roughly 1–3k tokens, and every result also carries structured data that follows the tool's output schema.
  • Links back to GeneBe, so the human can check the source.

Connect in a minute

No sign-up, no API key. The server is remote; you only add its URL.

Claude Code
bash
claude mcp add --transport http genebe https://mcp.genebe.net/v1/mcp
Claude (web and desktop)

Settings → Connectors → Add custom connector, then enter https://mcp.genebe.net/v1/mcp.

ChatGPT

Open chatgpt.com/plugins, click Add (+) → Add custom MCP, and enter https://mcp.genebe.net/v1/mcp.

Cursor

Add to ~/.cursor/mcp.json:

json
{ "mcpServers": { "genebe": { "url": "https://mcp.genebe.net/v1/mcp" } } }
VS Code

Add to .vscode/mcp.json:

json
{ "servers": { "genebe": { "type": "http", "url": "https://mcp.genebe.net/v1/mcp" } } }
Any other client / try it with curl

Any client that supports remote MCP over Streamable HTTP works. Try it from a terminal:

bash
curl -s -X POST https://mcp.genebe.net/v1/mcp \  -H 'Content-Type: application/json' -H 'Accept: application/json, text/event-stream' \  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"annotate_variant","arguments":{"variant":"chr6-160585140-T-G"}}}'

More examples: USAGE.md.

Tools

ToolWhat it does
annotate_variantStart here. Any notation → ACMG verdict, points and criteria, frequencies, predictor scores, ClinVar, consequences, GeneBe links
explain_acmg_decision_pathWhy each classification criterion applied, in plain text
convert_variantHGVS / rsID / SPDI → hg38 coordinates
get_variant_effectsPer-transcript consequences (HGVS c./p., impact)
get_geneGene identifiers, location, MANE Select, ClinGen gene–disease validity, transcripts
liftover_coordinatePositions, intervals or variants between hg19 / hg38 / t2t

The default genome build is hg38.

Trust and privacy

  • Read-only. No tool changes anything, anywhere.
  • No account, no key needed to use the hosted server.
  • Single variants only. No patient data, no VCF files, no samples are sent or stored.
  • Nothing is stored and variant input is not logged by the MCP server.
  • Transparent classification. Results come from GeneBe's points-based ACMG implementation; the reasoning is returned with the verdict, so you and the assistant can check it.
  • Open source under the MIT license; you can read exactly what the server does, or run your own copy.
  • Research use only. This is not a medical device and not a diagnosis. Classifications must be reviewed by a qualified specialist before any clinical use.

Roadmap

Today GeneBe MCP answers questions about single variants. We plan to grow it into a workspace your assistant can use on your own data. None of the items below is available yet, and the order may change.

  • Sign-in, so the assistant can act on your GeneBe account
  • Your own samples: view and edit sample details and annotations
  • Search your cohort: find a variant across your own set of samples
  • Upload samples from the assistant
  • Supervise computations: start analyses, follow their progress and read the results

Ideas or requests? Open an issue or write to us via genebe.net.

Data sources

Results combine data from GeneBe, gnomAD, ClinVar, UniProt, ClinGen and dbNSFP predictors. Please check each source's license terms before redistributing the data.

Contributing and self-hosting

Want to run your own instance or change the code? See DEVELOPMENT.md. Issues and pull requests are welcome.


Made by the GeneBe team · MIT · Research use only

來源:README.md,提交 521194f

工具

6

annotate_variant

Annotate and classify one human genetic variant using GeneBe. Start here for any question about a variant (what is it, is it pathogenic/benign, how common is it). Returns the ACMG verdict with points and criteria, population frequency (gnomAD), predictor scores (REVEL, AlphaMissense, SpliceAI, ...), ClinVar status, transcript consequences, and links to the GeneBe page to cite. Research use only; not a diagnosis.

輸入參數genomevariant必填transcriptgene_symbol

explain_acmg_decision_path

Explain step by step why each classification criterion did or did not apply to a variant. Use after annotate_variant when the user asks "why was this classified that way?". Returns an ASCII rendering of the decision tree with the evaluated conditions. By default it explains the germline ACMG verdict that annotate_variant returns; the somatic trees 'oncogenicity' (2022) and 'acgs-uk-onco' (2025) can be requested explicitly. Research use only.

輸入參數treegenomevariant必填version

convert_variant

Convert a variant written in any notation into normalized hg38 genomic coordinates. Use when you only need the chr/pos/ref/alt of a variant (for example to translate HGVS or an rsID), without annotation. Does not classify the variant; use annotate_variant for that.

輸入參數variant必填input_genome

get_variant_effects

List a variant's predicted molecular consequences on every overlapping transcript. Returns per-transcript HGVS (c. and p.), consequence terms (e.g. missense_variant) and impact, most severe and MANE Select transcripts first. Lightweight: no frequencies or classification.

輸入參數genomevariant必填

get_gene

Look up a human gene: identifiers, location, MANE Select transcript, ClinGen gene-disease validity. Use for questions about a gene rather than a specific variant. Transcripts are listed with MANE Select first and capped; check total_transcripts.

輸入參數gene必填include_transcripts

liftover_coordinate

Convert a genomic position, interval or variant between genome builds (hg19, hg38, t2t). Check `status`: RESOLVED means one result, AMBIGUOUS means several candidates, anything else means it could not be mapped (see errors). For variants, ref/alt are rebuilt against the target reference and warnings such as REF_MISMATCH may apply.

輸入參數query必填to_genome必填from_genome必填

版本歷史

1
  1. v0.1.0最新Oct 22, 2026

評分

已滿足適用檢查項的 100%

該評分衡量此收錄條目的完整程度,依據註冊中心條目、端點與公開來源計算得出。它不是對伺服器本身的評價,也不表示伺服器安全或目前可用:可連通性是帶日期的檢查結果,評分也不包含安裝量或使用者評價。

  • 近 30 天內可連通必需25 分
  • 已宣告認證方式必需10 分
  • 已列出工具必需15 分
  • 描述必需15 分
  • 圖示10 分
  • 文件15 分
  • 授權條款10 分