gnomAD
live BiologyHealthBroad Institute gnomAD — genome aggregation, population allele frequencies, variant annotations (GraphQL). Keyless.
Tools
variant Variant by chr-pos-ref-alt (e.g. "1-55051215-G-A") or rsid (e.g. "rs1801133"). Coordinates must match the dataset's genome build: the default gnomad_r4 is GRCh38, so a GRCh37/hg19 position will not be
No parameters required.
Try it
gene Gene info + variants. Accepts gene symbol (e.g. "BRCA1") or Ensembl gene id.
No parameters required.
Try it
region Variants in a genomic region (≤25kb recommended). You MUST say which genome build your start/stop are in via assembly — there is no default, because a position is valid in both builds and a wrong gues
No parameters required.
Try it
transcript Fetch gnomAD variant data for an Ensembl transcript (ENST…), returning transcript coordinates, gene symbol, chromosome position, and per-variant allele counts (ac/an) from exome and genome datasets.
No parameters required.
Try it
search Autocomplete-style search across gnomAD genes and variants by free-text query; returns matching Ensembl gene IDs with symbols, and matching variant IDs (an rsid resolves here). Use to resolve a partia
No parameters required.
Try it
Test with curl
The gateway speaks JSON-RPC 2.0 over HTTP POST. You can test any pack directly from the terminal.
curl -X POST https://gateway.pipeworx.io/gnomad/mcp \
-H "Content-Type: application/json" \
-d '{"jsonrpc":"2.0","id":1,"method":"tools/list"}' curl -X POST https://gateway.pipeworx.io/gnomad/mcp \
-H "Content-Type: application/json" \
-d '{"jsonrpc":"2.0","id":2,"method":"tools/call","params":{"name":"variant","arguments":{}}}' Use with the SDK
Install @pipeworx/sdk to call tools from any TypeScript/Node project.
import { Pipeworx } from '@pipeworx/sdk';
const px = new Pipeworx();
const result = await px.call("variant", {}); // Or ask in plain English:
const answer = await px.ask("broad institute gnomad — genome aggregation, population allele frequencies, variant annotations (graphql)");