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Search Variant Interpretation , found 3 results

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ClinVar Variant Explorer

clinvar-database

K-Dense-AI/claude-scientific-skills

Query NCBI ClinVar for variant clinical significance, mixing gene/condition searches, API/FTP downloads, and VCF annotations to support genomic medicine interpretation workflows.

GnomAD Variant Lookup

gnomad-database

K-Dense-AI/claude-scientific-skills

Query gnomAD via GraphQL to retrieve allele frequencies, constraint scores, and loss-of-function annotations for population-informed variant interpretation and rare disease gene prioritization.

Jaspar TFBS Toolkit

jaspar-database

K-Dense-AI/claude-scientific-skills

Query the JASPAR REST API and Python helpers to retrieve TF binding profiles, convert PFMs to PWMs, and scan DNA sequences for high-confidence motifs, enabling regulatory variant interpretation, ChIP/ATAC analysis, and TF network construction.

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