clinvar-database
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.
Security Assessment
About clinvar-database
The clinvar-database skill provides users with the ability to query the NCBI ClinVar database, which serves as a comprehensive archive of information regarding the relationship between human genetic variants and their corresponding clinical significance. This skill addresses the need for easily accessible and programmatic interactions with ClinVar data, allowing researchers, clinicians, and genetic counselors to retrieve important information about genetic variants efficiently. By leveraging this skill, users can enhance their understanding of variant pathogenicity, which is crucial for genomic medicine and personalized healthcare.
FAQ
How can I search for specific variants using this skill?
You can search for specific variants using gene names, clinical significance, conditions, or other parameters through the web interface or programmatically via the E-utilities API.
Is there an API available for programmatic access?
Yes, the skill supports programmatic access through NCBI's E-utilities API, which allows users to perform searches, retrieve summaries, and more.
What are the data formats available when downloading from the FTP site?
Comprehensive documentation on file formats and processing is available in the references/data_formats.md file.
Are there any limitations on the number of requests I can make?
Yes, the default rate limit is 3 requests per second. However, you can increase this limit to 10 requests per second by using an API key.
Who can benefit from using the clinvar-database skill?
Researchers, clinicians, genetic counselors, and anyone interested in understanding the clinical implications of genetic variants can benefit from this skill.
Install clinvar-database
Quick Setup:
- Copy the skill folder to
.claude/skills/ - Claude will automatically detect and use the skill
Repository
K-Dense-AI/claude-scientific-skills