Skip to main content
Glama

GenomeMCP

AI-powered genomic intelligence through the Model Context Protocol

Python 3.10+ MCP License: MIT ClinVar gnomAD Reactome Deploy on Railway

GenomeMCP is a research-grade Model Context Protocol (MCP) server that enables AI agents to query clinical genomics databases, retrieve supporting scientific literature, analyze population genetics, and visualize biological pathways โ€” all in real-time.


๐Ÿ–ฅ๏ธ CLI Tool

GenomeMCP includes a beautiful command-line interface with rich formatting and an interactive TUI mode.

Quick Install

# Recommended (any platform with Python)
pipx install genomemcp

# macOS (Homebrew)
brew install nexisdev/tap/genomemcp

# Windows (Scoop)
scoop bucket add genomemcp https://github.com/nexisdev/scoop-genomemcp
scoop install genomemcp

# From source
git clone https://github.com/nexisdev/GenomeMCP.git
cd GenomeMCP && ./install.sh

Standalone binaries available on GitHub Releases.

CLI Commands

genomemcp search BRCA1              # ๐Ÿ” Search ClinVar
genomemcp variant 12345             # ๐Ÿ“‹ Get variant report
genomemcp gene TP53                 # ๐Ÿงฌ Get gene info
genomemcp pathway EGFR --visualize  # ๐Ÿ”ฌ Pathway analysis
genomemcp population 1-55516888-G-GA # ๐Ÿ‘ฅ gnomAD frequencies
genomemcp discover "Lynch Syndrome" # ๐Ÿ”— Discover related genes
genomemcp tui                       # ๐Ÿ–ฅ๏ธ Interactive mode

Theme Options

genomemcp --theme cyberpunk search BRCA1
genomemcp --theme professional gene TP53
genomemcp --theme minimal pathway EGFR

See CLI Guide for complete documentation.


๐ŸŽฏ Why GenomeMCP?

Problem

GenomeMCP Solution

AI agents lack genomic knowledge

Direct ClinVar, gnomAD, Reactome integration

No evidence for clinical claims

Auto-retrieves PubMed abstracts

Variant interpretation is complex

Population frequency + pathway context

Gene-disease links are opaque

Automatic relationship discovery


๐Ÿงฌ Features

Core Genomics Tools

  • search_clinvar(term) โ€” Query ClinVar for genes, variants, or diseases

  • get_variant_report(id) โ€” Detailed clinical significance report

  • get_gene_info(symbol) โ€” Gene function, location, and aliases from NCBI Gene

  • get_supporting_literature(id) โ€” PubMed articles linked to a variant

Population Genetics

  • get_population_stats(variant) โ€” Allele frequency from gnomAD (Genome Aggregation Database)

Pathway Analysis

  • get_pathway_info(gene) โ€” Reactome biological pathways for a gene

  • visualize_pathway(gene) โ€” Generate Mermaid.js diagrams of gene-pathway relationships

Discovery & Synthesis

  • find_related_genes(phenotype) โ€” Discover genes associated with a disease

  • get_genomic_context(gene, position) โ€” Identify exon vs intron regions

  • get_discovery_evidence(phenotype) โ€” Aggregate PubMed abstracts for AI reasoning


๐Ÿš€ Quick Start

MCP Server Installation

# Clone the repository
git clone https://github.com/nexisdev/GenomeMCP.git
cd GenomeMCP

# Install dependencies with uv
uv sync

# Run the MCP server
uv run python src/main.py

CLI Installation

# Using the install script
./install.sh

# Or with pip
pip install genomemcp[cli]

# Or for development
./setup-dev.sh
source .venv/bin/activate

Claude Desktop Integration

Add to your claude_desktop_config.json:

{
  "mcpServers": {
    "genomemcp": {
      "command": "uv",
      "args": [
        "--directory",
        "/path/to/GenomeMCP",
        "run",
        "python",
        "src/main.py"
      ]
    }
  }
}

### โ˜๏ธ Cloud Deployment (Railway)

You can deploy the GenomeMCP server to the cloud with one click. It will be exposed as an SSE (Server-Sent Events) endpoint, ready for remote agents.

1. Click the **Deploy on Railway** button above.
2. Provide your `SUPABASE_URL` and `SUPABASE_KEY` (optional, for persistence).
3. Connect your agent to the deployment URL (e.g. `https://your-app.up.railway.app/sse`).

---

## ๐Ÿ“– Usage Examples

### Search for a Gene Variant

User: "What variants are associated with BRCA1?" Agent uses: search_clinvar("BRCA1")


### Get Population Frequency

User: "How common is the variant 1-55516888-G-GA?" Agent uses: get_population_stats("1-55516888-G-GA") โ†’ Returns gnomAD allele frequency: 0.000123 (0.01%)


### Discover Gene-Disease Relationships

User: "What genes are linked to Lynch Syndrome?" Agent uses: find_related_genes("Lynch Syndrome") โ†’ Returns: MSH2 (12 variants), MLH1 (8 variants), PMS2 (5 variants)


### Visualize Pathways

User: "Show me the pathways for TP53" Agent uses: visualize_pathway("TP53") โ†’ Returns Mermaid diagram:


```mermaid
graph TD
    TP53((TP53))
    TP53 --> P_123["Transcriptional Regulation by TP53"]
    TP53 --> P_456["Cell Cycle Checkpoints"]
    TP53 --> P_789["DNA Damage Response"]

๐Ÿ”ฌ Data Sources

Source

Description

API

ClinVar

Clinical variant interpretations

NCBI E-utilities

gnomAD

Population allele frequencies

gnomAD GraphQL

Reactome

Biological pathway database

Reactome Content Service

PubMed

Scientific literature

NCBI E-utilities

NCBI Gene

Gene annotations

NCBI E-utilities


๐Ÿ—๏ธ Architecture

GenomeMCP/
โ”œโ”€โ”€ src/
โ”‚   โ”œโ”€โ”€ main.py          # MCP server & tool definitions
โ”‚   โ”œโ”€โ”€ clinvar.py       # ClinVar & PubMed API client
โ”‚   โ”œโ”€โ”€ genomics.py      # Exon/Intron mapping
โ”‚   โ”œโ”€โ”€ population.py    # gnomAD integration
โ”‚   โ”œโ”€โ”€ pathways.py      # Reactome integration
โ”‚   โ”œโ”€โ”€ utils.py         # Shared utilities
โ”‚   โ””โ”€โ”€ cli/             # Command-line interface
โ”‚       โ”œโ”€โ”€ app.py       # Typer CLI application
โ”‚       โ”œโ”€โ”€ formatters/  # Rich output formatters
โ”‚       โ”œโ”€โ”€ tui/         # Textual interactive UI
โ”‚       โ””โ”€โ”€ config.py    # Theme configuration
โ”œโ”€โ”€ tests/               # Unit tests
โ”œโ”€โ”€ docs/                # Documentation
โ”œโ”€โ”€ install.sh           # Quick install script
โ”œโ”€โ”€ setup-dev.sh         # Development setup
โ””โ”€โ”€ pyproject.toml       # Project configuration

๐Ÿงช Testing

# Run all tests
uv run pytest

# Run CLI tests
uv run pytest tests/test_cli.py -v

# Run specific test suite
uv run pytest tests/test_phase4.py tests/test_phase5.py

๐Ÿ“š Documentation


๐Ÿค Contributing

Contributions are welcome! Please open an issue or submit a pull request.


๐Ÿ“„ License

MIT License โ€” see LICENSE for details.


๐Ÿ”— Keywords

genomics bioinformatics clinvar gnomad mcp model-context-protocol ai-agent claude variant-interpretation population-genetics reactome pathway-analysis pubmed ncbi gene-discovery clinical-genomics precision-medicine llm-tools cli tui terminal


A
license - permissive license
-
quality - not tested
F
maintenance

Latest Blog Posts

MCP directory API

We provide all the information about MCP servers via our MCP API.

curl -X GET 'https://glama.ai/api/mcp/v1/servers/Eldergenix/GenomeMCP'

If you have feedback or need assistance with the MCP directory API, please join our Discord server