Getting variants information programatically by quering chromosome, position, reference and alternative (chr pos ref alt)
Hello.
Is there a command line program or an API for getting variants' data such as reference sequences (in the NM_########.# structure), HGVS's (such as c.673T>C) and condition ID value (such as 616843), clinical significance (such as 'pathogenic' or 'benign').
Thanks.
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Pierre Lindenbaum
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langzvi •
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langzvi •
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