MARRVEL-MCP

A Model Context Protocol (MCP) server for MARRVEL - enabling AI agents to access genetics databases and variant analysis tools for rare disease research.

Try out MARRVEL-MCP in action:

• MARRVEL-MCP Chatbot Demo

git clone https://github.com/hyunhwan-bcm/MARRVEL_MCP.git
cd MARRVEL_MCP

# Using uv (recommended)
uv sync                  # core MCP server only
uv sync --extra eval     # include evaluation framework dependencies

# Or using pip
pip install .                  # core MCP server only
pip install ".[eval]"          # include evaluation framework dependencies

To use MARRVEL-MCP with Claude Desktop, LM Studio, or other MCP-compatible clients, add the following to your client's MCP configuration:

{
  "mcpServers": {
    "marrvel-mcp": {
      "command": "/path/to/your/.venv/bin/python",
      "args": ["/path/to/MARRVEL_MCP/server.py"]
    }
  }
}

Replace the paths with the actual locations of your Python virtual environment and the cloned repository.

Ask your AI assistant natural language questions about genes, variants, diseases, orthologs, and literature. For example test cases, see mcp_llm_test/test_cases.yaml.

MARRVEL-MCP provides 35+ MCP tools for genetics research:

• Gene queries - by symbol, Entrez ID, or genomic position
• Variant analysis - dbNSFP, ClinVar, gnomAD, DGV, Geno2MP
• Disease associations - OMIM, HPO, DECIPHER
• Ortholog information - DIOPT across model organisms
• Expression data - GTEx, Pharos drug targets, STRING interactions
• Literature search - PubMed, PMC full text/tables/figures
• Coordinate conversion - hg19/hg38 liftover

See docs/TOOL_RELATIONSHIPS.md for a visual diagram of tool chains and workflows.

# Install with dev dependencies
uv sync --group dev --extra eval

# Run tests
pytest tests/

# Format code
black .

Wang J, et al. (2017) MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet 100(6):843-853.

• Website: https://marrvel.org
• API Docs: https://marrvel.org/doc