bio-clinical-databases-gnomad-frequencies
Query gnomAD for population allele frequencies to assess variant rarity. Use when filtering variants by population frequency for rare disease analysis or determining if a variant is common in the general population.
npx skills add majiayu000/claude-skill-registry --skill gnomad-frequencies-gptomics-bioskills-071c5932 --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
# gnomAD Frequency Queries ## gnomAD REST API ### Query Single Variant ```python import requests def query_gnomad(chrom, pos, ref, alt, dataset='gnomad_r4'): '''Query gnomAD API for variant frequency dataset options: gnomad_r4, gnomad_r3, gnomad_r2_1 ''' url = 'https://gnomad.broadinstitute.org/api' query = ''' query ($variantId: String!, $dataset: DatasetId!) { variant(variantId: $variantId, dataset: $dataset) { exome { ac an af homozygote_count } genome { ac an af homozygote_count } } } ''' variant_id = f'{chrom}-{pos}-{ref}-{alt}' variables = {'variantId': variant_id, 'dataset': dataset} response = requests.post(url, json={'query': query, 'variables': variables}) return response.json() ``` ### Parse gnomAD Response ```python def parse_gnomad_result(result): '''Extract allele frequencies from gnomAD response''' data = result.get('data', {}).get('variant', {}) if not data: return None exome = data.get('exome', {}) or {} genome = data.get('genome', {}) or {} return { 'exome_af': exome.get('af'), 'exome_ac': exome.get('ac'), 'exome_an': exome.get('an'), 'exome_hom': exome.get('homozygote_count'), 'genome_af': genome.get('af'), 'genome_ac': genome.get('ac'), 'genome_an': genome.get('
- gnomAD REST API
- Query Single Variant
- Parse gnomAD Response
- Query via myvariant.info
- Population-Specific Frequencies
- Filtering Thresholds
- Filter Variants by Frequency
- Batch Query with Local gnomAD
- Related Skills
What does the bio-clinical-databases-gnomad-frequencies skill do?
Query gnomAD for population allele frequencies to assess variant rarity. Use when filtering variants by population frequency for rare disease analysis or determining if a variant is common in the general population.
How do I install it?
Run `npx skills add majiayu000/claude-skill-registry --skill gnomad-frequencies-gptomics-bioskills-071c5932 --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From majiayu000/claude-skill-registry, a repository with 534 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.