File format:
{'description': 'ClinVar resource downloaded on 2022-11-05. Chromosome names are\nremapped to have chr prefix.\n\nClinVar is a freely accessible, public archive of reports of the \nrelationships among human variations and phenotypes, with supporting \nevidence. ClinVar thus facilitates access to and communication about \nthe relationships asserted between human variation and observed health \nstatus, and the history of that interpretation. ClinVar processes \nsubmissions reporting variants found in patient samples, assertions \nmade regarding their clinical significance, information about the submitter, \nand other supporting data. The alleles described in submissions are mapped \nto reference sequences, and reported according to the HGVS standard. \nClinVar then presents the data for interactive users as well as those \nwishing to use ClinVar in daily workflows and other local applications. \nClinVar works in collaboration with interested organizations to meet \nthe needs of the medical genetics community as efficiently and effectively \nas possible\n', 'labels': {'reference_genome': 'hg38/genomes/GRCh38-hg38'}}