| name | genetic_counseling_report |
| description | Genetic Counseling Variant Report - Generate variant report for genetic counseling: VEP, ClinVar, gene phenotype, and literature evidence. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get phenotype gene pubmed search. Combines 4 tools from 2 SCP server(s). |
Genetic Counseling Variant Report
Discipline: Clinical Genetics | Tools Used: 4 | Servers: 2
Description
Generate variant report for genetic counseling: VEP, ClinVar, gene phenotype, and literature evidence.
Tools Used
get_vep_hgvs from ensembl-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl
clinvar_search from search-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/7/Origene-Search
get_phenotype_gene from ensembl-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/12/Origene-Ensembl
pubmed_search from search-server (streamable-http) - https://scp.intern-ai.org.cn/api/v1/mcp/7/Origene-Search
Workflow
- Predict variant effect with VEP
- Search ClinVar significance
- Get gene-phenotype associations
- Search PubMed for clinical evidence
Test Case
Input
{
"hgvs":