Gnomad

@pipeworx/gnomad

gnomAD MCP — Genome Aggregation Database (Broad Institute) public GraphQL endpoint. Population allele frequencies + variant pathogenicity annotations. Keyless.

Part of Pipeworx — an MCP gateway connecting AI agents to 1879+ live data sources. This is an independent, unofficial integration — not affiliated with, endorsed by, or published by the upstream provider.

Tools

• variant(variant_id, dataset?) — by chr-pos-ref-alt (e.g. 1-55051215-G-A) or rsid
• gene(gene_symbol_or_id, dataset?, limit?, offset?) — variants in / near a gene
• region(chrom, start, stop, assembly, dataset?, limit?, offset?) — variants in a genomic region
• transcript(transcript_id, dataset?, limit?, offset?) — variants in / near a transcript
• search(query) — gene / variant search (autocomplete)

Variant lists are paged

gnomAD returns every variant for a gene, region or transcript with no limit of its own (BRCA1 has about 7,300). gene, region and transcript return one page — limit (default 500, max 2,000) starting at offset (default 0) — and say so in the response:

• truncated: true whenever the page holds fewer variants than gnomAD has;
• variants_page: total (exact), returned, offset, limit, next_offset (null on the last page), upstream_bytes, and a plain note.

To get more, call again with offset = next_offset, raise limit, or narrow the query with region. The page is cut while the response streams in, so a large gene costs the gateway one page of memory, not the whole list.

dataset defaults to gnomad_r4 (most recent release). Other valid: gnomad_r3, gnomad_r2_1, gnomad_sv_r4, etc.

Data source

https://gnomad.broadinstitute.org/api

Quick Start

Add to your MCP client (Claude Desktop, Cursor, Windsurf, etc.):

{
  "mcpServers": {
    "gnomad": {
      "url": "https://gateway.pipeworx.io/gnomad/mcp"
    }
  }
}

What this endpoint actually serves

tools/list at https://gateway.pipeworx.io/gnomad/mcp returns the tools in the table above plus the shared Pipeworx meta-tools — ask_pipeworx, discover_tools, search_within, remember/recall and the rest of the gateway-wide set. So the tool count you see is larger than this table: a single-pack endpoint currently lists roughly 30 shared tools alongside the pack's own. The connection's initialize response states its exact scope, and is the authoritative answer for a given day.

This is deliberate, not multiplexing by accident. The meta-tools are what let a scoped connection answer a question this pack does not cover — via ask_pipeworx, which routes across the whole catalog — without you adding a second MCP server. There is currently no way to mount a pack endpoint without them; if the extra schemas cost you more context than the routing is worth, connect to the full gateway once rather than to several pack endpoints.

Or connect to the full Pipeworx gateway to get every pack's tools listed directly, instead of just this one's:

{
  "mcpServers": {
    "pipeworx": {
      "url": "https://gateway.pipeworx.io/mcp"
    }
  }
}

Both URLs reach the same gateway and the same 1879+ data sources. The only difference is which pack's tools are listed directly; ask_pipeworx reaches all of them from either one.

No MCP client? Call it over HTTP

curl -X POST https://gateway.pipeworx.io/v1/tools/gnomad_variant \
  -H 'Content-Type: application/json' \
  -d '{"variant_id":"1-55051215-G-A"}'

No account needed for the first calls. Inspect any tool: GET https://gateway.pipeworx.io/v1/tools/gnomad_variant. Find one: POST https://gateway.pipeworx.io/v1/tools/search_packs with {"query":"..."}.

Standalone (no gateway account)

This package also runs as a local stdio MCP server — no Pipeworx account, no gateway round-trip:

{
  "mcpServers": {
    "gnomad": {
      "command": "npx",
      "args": ["-y", "@pipeworx/mcp-gnomad"]
    }
  }
}

Or run it directly to confirm it starts:

npx -y @pipeworx/mcp-gnomad

It speaks MCP over stdin/stdout and answers initialize/tools/list/tools/call for only this pack's tools — none of the shared meta-tools the gateway connection above adds. Same source, same tools, no ask_pipeworx routing.

Using with ask_pipeworx

Instead of calling tools directly, you can ask questions in plain English — this works on the pack endpoint above as well as on the full gateway:

ask_pipeworx({ question: "your question about Gnomad data" })

The gateway picks the right tool and fills the arguments automatically.

More

• Docs and guides
• pipeworx.io

License

MIT