gnomAD MCP Server
Click on "Install Server".
Wait a few minutes for the server to deploy. Once ready, it will show a "Started" state.
In the chat, type
@followed by the MCP server name and your instructions, e.g., "@gnomAD MCP Servershow me population frequencies for variant 12-120931006-G-A in v4"
That's it! The server will respond to your query, and you can continue using it as needed.
Here is a step-by-step guide with screenshots.
gnomAD MCP Server
Overview
This MCP server provides a programmatic interface to the Genome Aggregation Database (gnomAD) API, supporting multiple API versions (v2.1.1, v3.1.2, v4.1.0).
It abstracts version-specific field and schema differences, exposing a unified API for downstream tools and users.
Related MCP server: UCSC Genome Browser MCP Server
Status
š§ Under Active Development š§
This project is under active development. APIs and features may change without notice.
Supported gnomAD API Versions
v4.1.0 (
gnomad_r4)v3.1.2 (
gnomad_r3)v2.1.1 (
gnomad_r2_1)
Supported Queries by Version
The following table summarizes which queries are available for each gnomAD API version:
Query Type | Description | v2 | v3 | v4 |
get_gene_info | Retrieve gene metadata and constraint metrics (direct lookup by gene_id/gene_symbol) | ā | ā | ā |
get_region_info | Retrieve variant and summary information for a genomic region | ā | ā | ā |
get_variant_info | Retrieve variant metadata and population frequency data (by variantId) | ā | ā | ā |
get_clinvar_variant_info | Retrieve ClinVar variant data and clinical significance | ā | ā | ā |
get_mitochondrial_variant_info | Retrieve mitochondrial variant data and population frequencies | ā | ā | ā |
get_structural_variant_info | Retrieve structural variant (SV) data and population frequencies | ā | ā | ā |
get_copy_number_variant_info | Retrieve copy number variant (CNV) data and population frequencies | ā | ā | ā |
search_for_genes | Search for genes by symbol or name (no direct gene_id lookup in v2/v3) | ā | ā | ā |
search_for_variants | Search for variants by ID, gene, or region | ā | ā | ā |
get_str_info | Retrieve short tandem repeat (STR) data and population frequencies | ā | ā | ā |
get_all_strs | Retrieve all STRs in the dataset | ā | ā | ā |
get_variant_liftover | Retrieve liftover mapping for a variant between genomes | ā | ā | ā |
get_metadata | Retrieve gnomAD browser metadata and API version info | ā | ā | ā |
ā = Supported in this version
ā = Not supported in this version
Dependencies
Python >= 3.13
aiohttp >= 3.11.18fastmcp >= 2.2.1gql >= 3.5.2httpx >= 0.28.1mcp[cli] >= 1.6.0nest-asyncio >= 1.6.0pytest >= 8.3.5pytest-asyncio >= 0.26.0
Directory Structure
.
āāā gnomad/ # Main package
ā āāā __init__.py
ā āāā types.py # Type definitions
ā āāā queries/ # GraphQL query templates
ā ā āāā v2/ # v2.1 specific queries
ā ā āāā v3/ # v3 specific queries
ā ā āāā v4/ # v4 specific queries
ā āāā schemas/ # Versioned schema files
āāā tests/ # Test code and data
ā āāā input/ # Test input data
ā ā āāā analyzed_schemas/ # Analyzed schema data
ā ā āāā schema2query/ # Schema to query conversion
ā ā āāā schemas/ # Raw schema files
ā āāā output/ # Test output data
ā ā āāā server/ # Server test outputs
ā ā āāā v2/ # v2.1 test outputs
ā ā āāā v3/ # v3 test outputs
ā ā āāā v4/ # v4 test outputs
ā āāā scripts/ # Test utility scripts
ā āāā tests/ # Additional test modules
āāā server.py # FastMCP server entrypoint
āāā pyproject.toml # Project metadata
āāā README.md # This file
āāā README_tests.md # Testing documentationSetup
Install dependencies
uv syncActivate the virtual environment
. .venv/bin/activateTest the server
uv --directory ./ run mcp dev server.pyAdd the MCP server to your MCP server list (Claude, Cursor, etc.)
{
"mcpServers": {
"gnomad": {
"command": "uv",
"args": ["--directory", "where you cloned the repo", "run", "server.py"],
"env": {}
}
}
}Run tests
Please see README_tests.md
Query & API Design
Uses the QueryTemplateEngine pattern to manage version-specific GraphQL query templates.
Currently, queries are fixed; see (
./gnomad/queries)The queries were obtained using schema_fetcher.py and schema_analyzer.py
TODO: Dynamic queries
MCP tool endpoints are documented with detailed parameter and output descriptions.
License
This MCP server itself is licensed under the Apache License 2.0 - see the LICENSE file for details.
This project uses the gnomAD API. Please ensure you cite gnomAD when using this tool or its outputs.
Acknowledgements
Maintenance
Resources
Unclaimed servers have limited discoverability.
Looking for Admin?
If you are the server author, to access and configure the admin panel.
Related MCP Servers
- FlicenseBqualityDmaintenanceEnables AI assistants to query genetic variant data, gene constraints, and population genetics information from the gnomAD (Genome Aggregation Database) through its GraphQL API. Supports searching for genes and variants, retrieving constraint scores, analyzing population frequencies, and accessing genomic coverage data.Last updated910
- AlicenseBqualityDmaintenanceProvides comprehensive access to the UCSC Genome Browser API, enabling queries of genomic data, DNA sequences, gene annotations, variants, and metadata across multiple species and assemblies.Last updated126MIT
- FlicenseAqualityDmaintenanceProvides interpretable variant effect predictions for 4.2 million ClinVar variants using the EVEE API. Enables searching, comparing, and analyzing genetic variants with AI-generated mechanistic interpretations and disruption profiles.Last updated615
- Alicense-qualityAmaintenanceFederates 13 gene-related MCP backends (gnomAD, GTEx, etc.) behind a single Streamable HTTP endpoint with collision-free namespacing and search-based tool discovery.Last updated1MIT
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Broad Institute gnomAD genomic variant database (GraphQL)
Look up genes, fetch sequences, predict variant consequences, find orthologs and xrefs via Ensembl.
MCP gateway federating 21 biomedical MCP servers behind one endpoint: gnomAD, ClinVar, HPO, VEP.
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