Query NHGRI-EBI GWAS Catalog for SNP-trait associations. Search variants by rs ID, disease/trait, gene, retrieve p-values and summary statistics, for genetic epidemiology and polygenic risk scores.
76
66%
Does it follow best practices?
Impact
96%
1.09xAverage score across 3 eval scenarios
Passed
No known issues
Optimize this skill with Tessl
npx tessl skill review --optimize ./scientific-skills/gwas-database/SKILL.mdDisease association querying with pagination
Correct API base URL
100%
100%
EFO trait identifier used
100%
100%
Content-Type header present
0%
100%
_embedded response parsing
100%
100%
Pagination implemented
100%
100%
Rate limiting present
100%
100%
Genome-wide significance filter
100%
100%
rsId field extracted
50%
62%
p-value field extracted
100%
100%
Risk allele field extracted
50%
37%
Effect size field extracted
100%
100%
SNP pleiotropy investigation
Correct variant endpoint
100%
100%
rs number as identifier
100%
100%
associationBySnp projection
100%
100%
Content-Type header present
0%
100%
_embedded response parsing
100%
100%
_links navigation used
100%
100%
efoTrait field extracted
90%
80%
p-value field extracted
100%
100%
Risk allele field extracted
75%
75%
Correct API base URL
100%
100%
Genomic region query and summary statistics filtering
Region query endpoint
100%
100%
Region query parameters
100%
100%
Summary Statistics API base URL
100%
100%
p_upper parameter used
100%
100%
Gene query endpoint
100%
100%
geneName parameter used
100%
100%
Main API base URL
100%
100%
Content-Type header present
0%
100%
_embedded response parsing
100%
100%
Three distinct result files
100%
100%
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Table of Contents
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