onekgpd
Query the 1000 Genomes Project dataset (3,202 whole-genome-sequenced individuals, GRCh38) at the level of individual participants. Use when a question is about individuals or variants in the 1000 Genomes Project cohort: which individuals carry variants matching specific criteria in a gene or region, which individuals are homozygous-reference at a position, which variants exist in the dataset or carried by specified individuals in a gene or region, the relatedness between two specified individuals. Variants are returned with 1000 Genomes allele frequencies (AF), gnomAD v4.1 exome and genome AF, AlphaMissense score, and HGVSp annotations.
- Version
- 1.2
- License
- MIT
- Compatibility
- Requires Python >=3.11. Variant and sample queries require outbound network access to the public 1000 Genomes query endpoint over TLS; the sample/population metadata commands run fully offline over a data file bundled in the skill. No credentials, API keys, or environment variables are used.
Pinned to revision de66e10cd0c8, so it is the text this page describes rather than whatever the author pushed since.
Pre-approved tools experimental
Experimental field. Support varies between clients, so this list is what the author declared, not what your client will enforce.
- Write
- Bash
Files
- skills/onekgpd/SKILL.md
- skills/onekgpd/assets/kgpe.json
- skills/onekgpd/references/annotation_vocabularies.md
- skills/onekgpd/references/onekgpd_commands.md
- skills/onekgpd/scripts/onekgpd_api.py
- skills/onekgpd/scripts/onekgpd_meta.py
Every link opens the file at its source, pinned to the revision this page describes.