gnomAD (Claude Skill)

GnomAD v4 population variant frequencies via GraphQL API.

Type	Claude Skill
Supplier	jaechang-hits (community OSS, CC BY 4.0)
Availability	GA — part of the BixBench-evaluated SciAgent-Skills collection
Pricing	Free / OSS (ODbL-1.0)
Capabilities	Read/Write — Claude runs the skill’s Python locally (Bash), not as an MCP tool

How to install

SciAgent-Skills is not an npm package — skills are plain markdown read directly by the agent (no npx/npm).

• Claude Code — clone and load as a plugin:

  git clone https://github.com/jaechang-hits/SciAgent-Skills
  

  Then inside Claude Code run /plugin install sciagent-skills (verify it appears under /plugin → Installed). Clone into your project directory so Claude Code picks the skills up via CLAUDE.md.

• Manual / other agents — point the agent at the skill file directly:

  cp -r SciAgent-Skills/skills/genomics-bioinformatics/databases/gnomad-database ~/.claude/skills/
  

  The skill declares its own Python dependencies in its SKILL.md; install them when prompted on first use.

What it does

gnomAD v4 population variant frequencies via GraphQL API. Allele counts and frequencies stratified by ancestry (AFR, AMR, EAS, NFE, SAS, FIN, ASJ, MID), gene-level constraint (pLI, LOEUF, missense z), and coverage. Identify rare or constrained variants. For clinical pathogenicity use clinvar-database; for GWAS use gwas-database.

Primary use cases: GnomAD v4 population variant frequencies via GraphQL API.

Notes

Distributed as a SKILL.md (plus code examples) in the SciAgent-Skills collection — Claude executes it locally via Bash/Python rather than as an MCP server. Upstream license: ODbL-1.0. The skill directory upstream is skills/genomics-bioinformatics/databases/gnomad-database.

Sources

• jaechang-hits/SciAgent-Skills
• skills/genomics-bioinformatics/databases/gnomad-database/SKILL.md

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