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variant-pathogenicity

Variant Pathogenicity Assessment - Assess variant pathogenicity: Ensembl VEP prediction, ClinVar lookup, variation details, and gene phenotype associations. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get variation get phenotype gene. Combines 4 tools from 2 SCP server(s).

SpectrAI-Initiative
maintainer
SpectrAI-Initiative
Actualizado 4/2/2026
Estrellas
371
Forks
23
quick start

Installation and usage

Variant Pathogenicity Assessment - Assess variant pathogenicity: Ensembl VEP prediction, ClinVar lookup, variation details, and gene phenotype associations. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get variation get phenotype gene. Combines 4 tools from 2 SCP server(s).

Instalación
$ install --globalskills.sh
Uso

Después de instalarlo, puedes usar este skill ejecutando el siguiente comando en tu terminal:

skills use variant-pathogenicity