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Is it possible to get hgvs official name from "15-49716528-A-G"? #743
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Hey @shizipo! I don't think this is possible with out-of-the-box with HGVS. However, the VRS-Python library (which is biocommons-adjacent) does include a code snippet from @korikuzma from biocommons.seqrepo import SeqRepo
from ga4gh.vrs.extras.translator import AlleleTranslator
from ga4gh.vrs.dataproxy import SeqRepoDataProxy
sr = SeqRepo(root_dir="/usr/local/share/seqrepo/latest")
seqrepo_dataproxy = SeqRepoDataProxy(sr)
allele_translator = AlleleTranslator(data_proxy=seqrepo_dataproxy)
gnomad_vcf = "15-49716528-A-G"
vo = allele_translator.translate_from(gnomad_vcf)
print(allele_translator.translate_to(vo, "hgvs"))
# ['NC_000015.10:g.49716528A>G'] |
like "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg19/15-49716528-A-G/mane_select/" ?
get "NC_000015.9(NM_001330293.1):c.911-1617T>C"
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