Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
86
83%
Does it follow best practices?
Impact
88%
1.15xAverage score across 3 eval scenarios
Advisory
Suggest reviewing before use
ClinVar E-utilities API best practices
Email identification
0%
100%
API key parameter
0%
0%
Exponential backoff
100%
100%
usehistory for large results
0%
0%
esummary version=2.0
0%
100%
Batch ID retrieval
100%
100%
Exclude conflicting interpretations
70%
100%
Review status filtering
12%
50%
Access date recorded
100%
100%
Correct API pipeline order
100%
100%
Three gene reports produced
100%
100%
VCF annotation with ClinVar and bcftools
Correct genome build
100%
100%
Index file downloaded
100%
100%
bcftools annotate -a flag
100%
100%
bcftools -c columns flag
100%
100%
Pathogenic filter command
100%
100%
Review status annotation
100%
100%
Conflicting interpretations flagged
100%
100%
VCF size limitation documented
0%
100%
ClinVar version/date documented
50%
100%
Large file cleanup
100%
100%
Output files produced
100%
100%
Bulk data format selection and reproducible analysis
Tab-delimited format chosen
100%
100%
Monthly release URL
62%
100%
pandas sep and compression
80%
80%
Conflicting variants counted separately
100%
100%
High-confidence filter
30%
0%
VUS reported separately
100%
75%
Access date in report
100%
100%
Data source documented
100%
100%
All four genes covered
100%
100%
Large file cleanup
100%
100%
Output file produced
100%
100%
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Table of Contents
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