eFetch Snp
eFetch Snp retrieves SNP (Single Nucleotide Polymorphism) records from NCBI dbSNP given a list of SNP IDs to support genetic variant annotation and downstream analyses.
Key Features:
- Entrez E-utilities: Uses NCBI Entrez Programming Utilities to programmatically query NCBI resources.
- dbSNP integration: Accesses dbSNP records as the authoritative source of SNP data.
- SNP attribute retrieval: Retrieves explicit SNP attributes including genomic location, allele frequency, and phenotype-related annotations.
- Batch/high-throughput processing: Accepts lists of SNP IDs and is intended to handle large datasets for bulk retrieval.
Scientific Applications:
- Genetic research: Provides SNP data for association studies, population genetics, and evolutionary analyses.
- Medical genetics: Supports identification of SNPs associated with disease phenotypes and drug response for precision medicine research.
- Bioinformatics analyses: Supplies variant information for genome-wide association studies (GWAS) and comparative genomics workflows.
Methodology:
Queries the dbSNP database via NCBI Entrez Programming Utilities (E-utilities) using provided SNP ID lists to retrieve dbSNP records and their annotated attributes.
Topics
Details
- Tool Type:
- api
- Operating Systems:
- Linux, Windows, Mac
- Added:
- 8/3/2015
- Last Updated:
- 11/25/2024
Operations
Publications
Unknown Authors. Database resources of the National Center for Biotechnology Information. Nucleic Acids Research. 2013;42(D1):D7-D17. doi:10.1093/nar/gkt1146. PMID:24259429. PMCID:PMC3965057.
Documentation
Links
Software catalogue
https://www.biocatalogue.org/services/39