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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-68807464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=68807464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 68807464,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001007231.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Trp",
"transcript": "NM_001007231.3",
"protein_id": "NP_001007232.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 646,
"cds_start": 658,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409202.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007231.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Trp",
"transcript": "ENST00000409202.8",
"protein_id": "ENSP00000386911.3",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 646,
"cds_start": 658,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007231.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409202.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "ENST00000409220.5",
"protein_id": "ENSP00000386241.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 639,
"cds_start": 637,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409220.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000409030.7",
"protein_id": "ENSP00000386863.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 638,
"cds_start": 634,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409030.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "ENST00000497079.5",
"protein_id": "ENSP00000417139.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 458,
"cds_start": 637,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497079.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.*483C>T",
"hgvs_p": null,
"transcript": "ENST00000473986.1",
"protein_id": "ENSP00000417425.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.*33C>T",
"hgvs_p": null,
"transcript": "ENST00000488795.1",
"protein_id": "ENSP00000420427.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.*483C>T",
"hgvs_p": null,
"transcript": "ENST00000473986.1",
"protein_id": "ENSP00000417425.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.*33C>T",
"hgvs_p": null,
"transcript": "ENST00000488795.1",
"protein_id": "ENSP00000420427.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488795.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Trp",
"transcript": "NM_001364819.1",
"protein_id": "NP_001351748.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 645,
"cds_start": 655,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364819.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "NM_001166276.2",
"protein_id": "NP_001159748.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 639,
"cds_start": 637,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166276.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "NM_014882.3",
"protein_id": "NP_055697.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 638,
"cds_start": 634,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014882.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Trp",
"transcript": "NM_001364821.1",
"protein_id": "NP_001351750.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 620,
"cds_start": 580,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364821.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Trp",
"transcript": "NM_001364820.1",
"protein_id": "NP_001351749.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 607,
"cds_start": 541,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364820.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "NM_001166277.2",
"protein_id": "NP_001159749.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 606,
"cds_start": 538,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166277.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Trp",
"transcript": "ENST00000467265.5",
"protein_id": "ENSP00000420583.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 606,
"cds_start": 538,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467265.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Trp",
"transcript": "ENST00000497259.5",
"protein_id": "ENSP00000417818.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 504,
"cds_start": 232,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497259.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Trp",
"transcript": "XM_011533207.4",
"protein_id": "XP_011531509.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 620,
"cds_start": 580,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533207.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Arg102Trp",
"transcript": "XM_011533209.3",
"protein_id": "XP_011531511.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 528,
"cds_start": 304,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533209.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.-32C>T",
"hgvs_p": null,
"transcript": "XM_011533210.4",
"protein_id": "XP_011531512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533210.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "c.-165C>T",
"hgvs_p": null,
"transcript": "XM_017005426.2",
"protein_id": "XP_016860915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005426.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.876C>T",
"hgvs_p": null,
"transcript": "ENST00000456116.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000456116.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.920C>T",
"hgvs_p": null,
"transcript": "ENST00000463483.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463483.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"hgvs_c": "n.825C>T",
"hgvs_p": null,
"transcript": "ENST00000485700.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485700.5"
}
],
"gene_symbol": "ARHGAP25",
"gene_hgnc_id": 28951,
"dbsnp": "rs958078986",
"frequency_reference_population": 0.000008673994,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.0000082092,
"gnomad_genomes_af": 0.0000131366,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4533270299434662,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.857,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001007231.3",
"gene_symbol": "ARHGAP25",
"hgnc_id": 28951,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}