hgvs

ltnetcase/BedAnno

Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104

SoloEdward/HgvsGo

HgvsGo is a program designed for analyzing "c." and "p." HGVS (Human Genome Variation Society) notations for single nucleotide variations (SNVs) and small insertions/deletions (indels) after variant calling. It serves as an alternative to tools like snpEff and VEP.

mutalyzer/algebra

A Boolean Algebra for Genetic Variants

chrovis/varity

Variant translation library for Clojure

chrovis/clj-hgvs

Clojure(Script) library for handling HGVS

pstawinski/pygenebe

PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing

mutalyzer/crossmapper

HGVS numbering conversions

ccwang002/pyhgvs-lite

A liteweight Python parser for HGVS names

mutalyzer/client

Mutalyzer API client and command line interface.

liuyanbioinfo/transvar

TransVar - multiway annotator for precision medicine

NGeneBio-Genomics-Platform/hgvs

HGVS variant name parsing and generation

NGeneBio-Genomics-Platform/rest_variantValidator

REST Interface for VariantValidator. Includes docker container

NGeneBio-Genomics-Platform/variantFormatter

NGeneBio-Genomics-Platform/vv_hgvs

Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`

mutalyzer/hgvs-parser

HGVS variant description parser

NGeneBio-Genomics-Platform/variantValidator

Public repository for VariantValidator project

precisely/seqvarnomjs

Sequence Variant Nomenclature Parser