GeneBe

net.genebe由 genebe.net 发布官方发布者v0.1.0更新于 Oct 26, 2026

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

已验证Streamable HTTP可网页运行数据与分析AI 与机器学习

概览

AI 生成的概览

远程 GeneBe 服务器,让助手用 ACMG 标准、gnomAD 频率、ClinVar 与预测器评分注释和分类人类基因变异。

可以做什么
  • 注释并分类单个变异:ACMG 结论及分值、判据、gnomAD 频率、预测器评分、ClinVar 与后果
  • 逐步解释每条 ACMG 判据为何适用或不适用,以决策树形式呈现
  • 把 HGVS、rsID 或 SPDI 写法转换为规范化的 hg38 坐标
  • 列出各转录本上的后果,含 HGVS c./p. 与影响程度
  • 查询基因:标识符、位置、MANE Select 转录本与 ClinGen 基因-疾病有效性
  • 在 hg19、hg38 与 t2t 之间转换位置、区间或变异
适用场景
当用户询问某个具体人类变异或基因,并希望助手依据数据而非记忆作答时适用:变异是什么、是否致病或良性、人群频率多高,或为何被如此分类。
运行要求
需要一个基于 Streamable HTTP 的远程 MCP 端点;无需注册、API 密钥或环境变量。任何支持远程 HTTP 服务器的 MCP 客户端均可连接,并需能访问该托管服务的网络。
安装前请注意
仅供研究使用:它不是医疗器械,也不构成诊断,任何临床使用前须由合格专业人员复核分类结果。变异输入会发送给第三方托管服务,其结果综合 GeneBe、gnomAD、ClinVar、UniProt、ClinGen 与 dbNSFP 数据,再分发前请核对各数据源的许可条款。工具被描述为只读且仅限单个变异,不涉及患者数据、VCF 文件或样本。

安装

在 SourceWeft 中

  1. 打开 控制台中的 GeneBe,将其添加到工作区。
  2. 为需要使用其工具的对话启用该服务。

Web executable,通过 Streamable HTTP。 远程服务在工作区中配置后即可从网页运行时运行。

交给智能体安装

把这段提示词粘贴到 Claude Code、Codex、Cursor 等智能体,或 SourceWeft 对话中。智能体会读取该服务器的安装指南,先向你展示发布者、端点和登录方式,经你同意后再把它添加到你的客户端。密钥不会写进任何命令。

阅读 https://sourceweft.com/mcp/net.genebe%2Fgenebe-mcp/install.md,并按其中说明把这个 MCP 服务器接入我的客户端。修改任何配置之前,先告诉我它的发布者、端点和登录方式,等我确认。不要把 API 密钥写进命令或我会提交的文件;问我密钥应从哪里获取。

查看智能体所依据的安装指南

其他 MCP 客户端

把它添加到你客户端的 mcpServers 配置中。

{
  "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

来源: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.

输入参数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.

输入参数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.

输入参数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.

输入参数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.

输入参数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.

输入参数query必填to_genome必填from_genome必填

版本历史

1
  1. v0.1.0最新Oct 22, 2026

评分

已满足适用检查项的 100%

该评分衡量此收录条目的完整程度,依据注册中心条目、端点与公开来源计算得出。它不是对服务器本身的评价,也不表示服务器安全或当前可用:可连通性是带日期的检查结果,评分也不包含安装量或用户评价。

  • 近 30 天内可连通必需25 分
  • 已声明认证方式必需10 分
  • 已列出工具必需15 分
  • 描述必需15 分
  • 图标10 分
  • 文档15 分
  • 许可证10 分