← Back to variant description
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: 2-63122012-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63122012&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63122012,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_015910.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2235G>C",
"hgvs_p": "p.Leu745Leu",
"transcript": "NM_015910.7",
"protein_id": "NP_056994.3",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 746,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272321.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015910.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2235G>C",
"hgvs_p": "p.Leu745Leu",
"transcript": "ENST00000272321.12",
"protein_id": "ENSP00000272321.7",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 746,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015910.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272321.12"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1758G>C",
"hgvs_p": "p.Leu586Leu",
"transcript": "ENST00000398544.7",
"protein_id": "ENSP00000381552.3",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 587,
"cds_start": 1758,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398544.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1659G>C",
"hgvs_p": "p.Leu553Leu",
"transcript": "ENST00000409120.5",
"protein_id": "ENSP00000386769.1",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 554,
"cds_start": 1659,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409120.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"transcript": "XM_005264348.5",
"protein_id": "XP_005264405.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 781,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264348.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_011532881.4",
"protein_id": "XP_011531183.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 757,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532881.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_047444626.1",
"protein_id": "XP_047300582.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 757,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444626.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_047444627.1",
"protein_id": "XP_047300583.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 757,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444627.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_047444628.1",
"protein_id": "XP_047300584.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 757,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444628.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_047444629.1",
"protein_id": "XP_047300585.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 757,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444629.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2056G>C",
"hgvs_p": "p.Gly686Arg",
"transcript": "XM_047444630.1",
"protein_id": "XP_047300586.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 748,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444630.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1678G>C",
"hgvs_p": "p.Gly560Arg",
"transcript": "XM_047444633.1",
"protein_id": "XP_047300589.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 622,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444633.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2376G>C",
"hgvs_p": "p.Leu792Leu",
"transcript": "ENST00000946854.1",
"protein_id": "ENSP00000616913.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 793,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946854.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2187G>C",
"hgvs_p": "p.Leu729Leu",
"transcript": "ENST00000872046.1",
"protein_id": "ENSP00000542105.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 730,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872046.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2163G>C",
"hgvs_p": "p.Leu721Leu",
"transcript": "NM_001354044.2",
"protein_id": "NP_001340973.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 722,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354044.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2046G>C",
"hgvs_p": "p.Leu682Leu",
"transcript": "ENST00000872048.1",
"protein_id": "ENSP00000542107.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 683,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872048.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2043G>C",
"hgvs_p": "p.Leu681Leu",
"transcript": "ENST00000946852.1",
"protein_id": "ENSP00000616911.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 682,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946852.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1794G>C",
"hgvs_p": "p.Leu598Leu",
"transcript": "ENST00000872047.1",
"protein_id": "ENSP00000542106.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 599,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872047.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1758G>C",
"hgvs_p": "p.Leu586Leu",
"transcript": "NM_001042692.3",
"protein_id": "NP_001036157.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 587,
"cds_start": 1758,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042692.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1659G>C",
"hgvs_p": "p.Leu553Leu",
"transcript": "ENST00000409199.5",
"protein_id": "ENSP00000386592.1",
"transcript_support_level": 2,
"aa_start": 553,
"aa_end": null,
"aa_length": 554,
"cds_start": 1659,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409199.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Leu535Leu",
"transcript": "ENST00000946853.1",
"protein_id": "ENSP00000616912.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946853.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2163G>C",
"hgvs_p": "p.Leu721Leu",
"transcript": "XM_047444631.1",
"protein_id": "XP_047300587.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 722,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.*284G>C",
"hgvs_p": null,
"transcript": "ENST00000409354.6",
"protein_id": "ENSP00000386795.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409354.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.246G>C",
"hgvs_p": null,
"transcript": "ENST00000487280.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000487280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.1878G>C",
"hgvs_p": null,
"transcript": "NR_122106.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_122106.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.2689G>C",
"hgvs_p": null,
"transcript": "NR_148704.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_148704.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.2338G>C",
"hgvs_p": null,
"transcript": "NR_148705.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_148705.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.*284G>C",
"hgvs_p": null,
"transcript": "ENST00000409354.6",
"protein_id": "ENSP00000386795.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409354.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286480",
"gene_hgnc_id": null,
"hgvs_c": "n.130+15004C>G",
"hgvs_p": null,
"transcript": "ENST00000657946.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000657946.1"
}
],
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"dbsnp": "rs757608139",
"frequency_reference_population": 6.8438965e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8439e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.049,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015910.7",
"gene_symbol": "WDPCP",
"hgnc_id": 28027,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2235G>C",
"hgvs_p": "p.Leu745Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000657946.1",
"gene_symbol": "ENSG00000286480",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.130+15004C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}