bio-clinical-databases-gnomad-frequencies SKILL.md skillA
bio-clinical-databases-gnomad-frequencies from fridrichmethod/awesome-skills is an agent skill: a SKILL.md folder an AI agent loads when a task calls for it.
mdr add fridrichmethod/awesome-skills/bio-clinical-databases-gnomad-frequencies@git:20260517.81511a7Pins git:20260517.81511a7 in mdr.lock. Pin the fingerprint instead.
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- SKILL.md skill
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- fridrichmethod/awesome-skills
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skills/bio-clinical-databases-gnomad-frequencies/SKILL.md- Versions recorded
- 1
- Latest version
- git:20260517.81511a7, committed May 17, 2026
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- 15
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- a license file GitHub does not identify
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.
Collected from public GitHub. Every version is saved exactly as it was and never changes. Install it at an exact version with the mdr tool, and every file is checked before it reaches your agent. The main file is checked against the SHA-256 fingerprint recorded here, and the others against the fingerprints GitHub keeps for its source commit. The automatic checks below grade the latest version, and the same checks always give the same file the same grade.
What the file says
## Version Compatibility
Reference examples tested with: requests 2.31+, pandas 2.2+
Before using code patterns, verify installed versions match. If versions differ:
- Python: `pip show <package>` then `help(module.function)` to check signatures
If code throws ImportError, AttributeError, or TypeError, introspect the installed
package and adapt the example to match the actual API rather than retrying.
# gnomAD Frequency Queries
## gnomAD REST API
**Goal:** Retrieve exome and genome allele frequencies from gnomAD for individual variants.
**Approach:** Send a GraphQL query to the gnomAD API with variant ID and dataset version, then parse exome/genome frequency fields.
**"Check how common this variant is in the population"** → Query gnomAD for allele frequency, allele count, and homozygote count.
- Python: GraphQL via `requests.post()` (requests)
- Python: `myvariant.MyVariantInfo().getvariant()` (myvariant)
### 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
'''
…Read the whole file at its exact version.
How to install
mdr add fridrichmethod/awesome-skills/bio-clinical-databases-gnomad-frequencies@sha256:37e18976a36267c2The line at the top of this page pins the label git:20260517.81511a7, which is what most people want. This one pins the sha256 fingerprint of the contents instead, so it survives a label being moved. Either way the exact version is written to mdr.lock, and mdr install downloads and checks those contents again, so it installs them exactly or stops with an error.
[](https://markdownregistry.com/a/art_duxiehkckygiuwbh)
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The registry has recorded 1 version of this file, committed on May 17, 2026.
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Source
fridrichmethod/awesome-skills · 15 stars · license a license file GitHub does not identify · pushed 2026-11-02 · branch main
API
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