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Get Started Free →mkurman/gnomad-database
Query the Genome Aggregation Database (gnomAD).
Passed 6 of 11 test cases with the skill, and 3 of 11 without it.
and 4 more in the full report
6 fixed5 passed either way10 still failing1 broke
Tokens, turns and time describe resource use, not a dollar price.
One of 6 test cases the skill fixed. Same model, same prompt, with and without the skill.
When searching for variants across chromosome 12 between positions 100000 and 200000 using search_variants.py, what is the default output filename expected by the helper conventions?
| Checked | Without skill | With skill |
|---|---|---|
| Uses region_variants.json as the output filename. | Missed | Passed |
The instructions your model reads when the skill loads.
uv: Read the uv skill and follow its Setup instructions to ensure
uv is installed and on PATH.All scripts are located in the scripts/ subdirectory of this skill's
installation directory. When running them, use the full absolute path to the
script (e.g. /path/to/gnomad_database/scripts/get_variant_frequency.py).
1. Variant Frequency. Retrieves global and ancestry-specific allele
frequencies, homozygote counts, and Grpmax Filtering AF (faf95/faf99) for
exome, genome, and total (exome+genome combined) data. The filtering allele
frequency (FAF) is the maximum credible genetic ancestry group AF (lower bound
of the 95% or 99% CI). Variant ID format must be chrom-pos-ref-alt (e.g.,
1-55516888-G-GA). Alternately, you may provide an rsID.
# By variant ID:
uv run scripts/get_variant_frequency.py --variant_id {variant_id} [--dataset {dataset}] --output variant_frequency.json
# By rsID (e.g., rs1800562):
uv run scripts/get_variant_frequency.py --rsid {rsid} [--dataset {dataset}] --output variant_frequency.json
test cases passed, vs 3 / 11 without
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