This entry duplicates gnomad-database, which is the one we list in search.

gnomad-database

Query the Genome Aggregation Database (gnomAD).

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Install

Works with Claude Code, Claude apps, Codex, Cursor, Gemini CLI, GitHub Copilot, VS Code, OpenCode, Goose, Windsurf. Read the repository before you give any tool access to your data.

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About

Query the Genome Aggregation Database (gnomAD). Use when determining the rarity or allele frequency of specific genetic variants, retrieving gene constraint metrics (pLI, LOEUF) to assess loss-of-function intolerance, finding variants in a genomic region or gene, or querying structural variants. Don't use for analyzing individual patient genomes, tracking somatic mutations in cancer (use COSMIC), or requesting raw sequencing reads (use ENA).

Use cases: backend

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What's inside

Skill name: gnomad-database
Description: Query the Genome Aggregation Database (gnomAD). Use when determining the rarity or allele frequency of specific genetic variants, retrieving gene constraint metrics (pLI, LOEUF) to assess loss-of-function intolerance, finding variants in a genomic region or gene, or querying structural variants. Don't use for analyzing individual patient genomes, tracking somatic mutations in cancer (use COSMIC), or requesting raw sequencing reads (use ENA).
License: unknown
Instructions: 64 lines in SKILL.md · view on GitHub

Before installing

Ships executable scripts

Files (5)

SKILL.md
citation.bib · references/
get_gene_constraint.py · scripts/
get_variant_frequency.py · scripts/
search_variants.py · scripts/

The license isn't open source, so the instructions aren't shown here. Read SKILL.md on GitHub

Signals

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Open issues: 0
Last commit (this folder): Aug 17, 2026 (2 months ago)

From GitHub (fetched Oct 24, 2026).

Details

License: License unknown
Repository: github.com/myoung906/MasVisio_Research
First seen: Oct 24, 2026
Last checked: Oct 24, 2026
Source: GitHub github-graphql

Same skill elsewhere

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