# gnomAD

> Use this tool when you need to analyze genomic variant data, solve problems related to variant pathogenicity, population genetics, and gene constraint, and integrate with the Genome Aggregation Database (gnomAD) via GraphQL API, which accepts genomic queries as input and returns detailed variant information, population frequencies, and functional annotations as output. It is ideal for clinical geneticists, researchers, and bioinformaticians working with genomic analysis workflows. This tool provides comprehensive coverage of genomic analysis, including gene and variant searches, transcript analysis, and structural variant discovery.

Canonical page: https://skillsregistry.net/skills/shukwong-gnomad  
JSON: https://api.skillsregistry.net/v1/skills/shukwong-gnomad

## Description

Provides integration with the gnomAD (Genome Aggregation Database) through ten specialized tools for querying genomic variant data via GraphQL API. The implementation offers complete genomic analysis workflow coverage including gene and variant searches, detailed variant information with population frequencies and functional annotations, transcript analysis, regional variant queries, coverage statistics, and structural variant discovery across multiple gnomAD datasets (r2.1, r3, r4) and reference genomes (GRCh37/GRCh38). Features intelligent dataset validation with automatic fallbacks to latest versions, comprehensive constraint scoring including pLI and LOEUF metrics, and support for mitochondrial variants, making it valuable for clinical geneticists analyzing variant pathogenicity, researchers studying population genetics and gene constraint, and bioinformaticians building genomic analysis pipelines that require programmatic access to gnomAD's extensive variant annotation and frequency data.

## Trust

- **Trust score (0–1):** 0.97
- **Verification tier:** verified
- **Last scanned:** 2026-09-19

## Facts

- **Version:** 1.0.0
- **Skill type:** atomic
- **Execution layer:** mcp-remote
- **Runtime environment:** api
- **Category:** database
- **Updated:** 2026-09-19

## Source

- **Source listing:** [PulseMCP](https://www.pulsemcp.com/servers/shukwong-gnomad)
- **Repository:** <https://github.com/shukwong/gnomad-mcp-server>

## Use it

Resolve this record through the SkillsRegistry MCP server (no auth, read-only):

```
claude mcp add --transport http --scope user skillsregistry https://api.skillsregistry.net/mcp
```

```json
{
  "jsonrpc": "2.0",
  "id": 1,
  "method": "tools/call",
  "params": {
    "name": "get_skill",
    "arguments": {
      "slug": "shukwong-gnomad"
    }
  }
}
```

REST: `GET https://api.skillsregistry.net/v1/skills/shukwong-gnomad` · pull for local use: `GET https://api.skillsregistry.net/v1/skills/shukwong-gnomad/pull`

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SkillsRegistry indexes agent skills from public registries and GitHub. Skills we have analysed are scanned with Circle-IR and scored on six dimensions; each listing states its scan coverage. More: https://skillsregistry.net/llms.txt