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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: 12-108196170-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=108196170&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 108196170,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014653.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "NM_014653.4",
"protein_id": "NP_055468.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 5082,
"mane_select": "ENST00000547525.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014653.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000547525.6",
"protein_id": "ENSP00000448047.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 5082,
"mane_select": "NM_014653.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547525.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000332082.8",
"protein_id": "ENSP00000331933.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332082.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000549903.1",
"protein_id": "ENSP00000447272.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 585,
"cds_start": 338,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549903.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "NM_001304447.2",
"protein_id": "NP_001291376.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304447.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000854238.1",
"protein_id": "ENSP00000524297.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854238.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000854237.1",
"protein_id": "ENSP00000524296.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 498,
"cds_start": 338,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854237.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000854239.1",
"protein_id": "ENSP00000524298.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854239.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020243.2",
"protein_id": "XP_016875732.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020243.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020244.2",
"protein_id": "XP_016875733.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 5400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020244.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020245.2",
"protein_id": "XP_016875734.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020245.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020246.3",
"protein_id": "XP_016875735.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020246.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020247.2",
"protein_id": "XP_016875736.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020247.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020248.2",
"protein_id": "XP_016875737.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 565,
"cds_start": 338,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020248.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020250.3",
"protein_id": "XP_016875739.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020250.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020251.3",
"protein_id": "XP_016875740.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020251.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_017020252.2",
"protein_id": "XP_016875741.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020252.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_047429913.1",
"protein_id": "XP_047285869.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 465,
"cds_start": 338,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429913.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "XM_047429914.1",
"protein_id": "XP_047285870.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 450,
"cds_start": 338,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429914.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "c.-77-10119G>A",
"hgvs_p": null,
"transcript": "ENST00000551638.5",
"protein_id": "ENSP00000446744.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551638.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307044",
"gene_hgnc_id": null,
"hgvs_c": "n.249-17823C>T",
"hgvs_p": null,
"transcript": "ENST00000823076.1",
"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": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000823076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307044",
"gene_hgnc_id": null,
"hgvs_c": "n.226-17839C>T",
"hgvs_p": null,
"transcript": "ENST00000823077.1",
"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": 480,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000823077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307044",
"gene_hgnc_id": null,
"hgvs_c": "n.409-17839C>T",
"hgvs_p": null,
"transcript": "ENST00000823078.1",
"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": 661,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000823078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "LOC124903077",
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"hgvs_c": "n.183-5151C>T",
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"transcript": "XR_007063583.1",
"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": 240,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124903077",
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"hgvs_c": "n.149-5151C>T",
"hgvs_p": null,
"transcript": "XR_007063584.1",
"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": 206,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"hgvs_c": "n.-25G>A",
"hgvs_p": null,
"transcript": "ENST00000547185.1",
"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": 433,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000547185.1"
}
],
"gene_symbol": "WSCD2",
"gene_hgnc_id": 29117,
"dbsnp": "rs187550758",
"frequency_reference_population": 0.00010036702,
"hom_count_reference_population": 0,
"allele_count_reference_population": 162,
"gnomad_exomes_af": 0.000101244,
"gnomad_genomes_af": 0.000091948,
"gnomad_exomes_ac": 148,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15699324011802673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.1207,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.405,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014653.4",
"gene_symbol": "WSCD2",
"hgnc_id": 29117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000823076.1",
"gene_symbol": "ENSG00000307044",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.249-17823C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007063583.1",
"gene_symbol": "LOC124903077",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183-5151C>T",
"hgvs_p": null
}
],
"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
}