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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: 2-53714479-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=53714479&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 53714479,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001164165.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "NM_016115.5",
"protein_id": "NP_057199.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263634.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016115.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000263634.8",
"protein_id": "ENSP00000263634.2",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016115.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263634.8"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR75-ASB3",
"gene_hgnc_id": 40043,
"hgvs_c": "c.999C>T",
"hgvs_p": "p.Cys333Cys",
"transcript": "NM_001164165.2",
"protein_id": "NP_001157637.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 556,
"cds_start": 999,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164165.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000406625.6",
"protein_id": "ENSP00000385085.4",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406625.6"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000893612.1",
"protein_id": "ENSP00000563671.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893612.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000893613.1",
"protein_id": "ENSP00000563672.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893613.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000893614.1",
"protein_id": "ENSP00000563673.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893614.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000893615.1",
"protein_id": "ENSP00000563674.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893615.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000893616.1",
"protein_id": "ENSP00000563675.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893616.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000893617.1",
"protein_id": "ENSP00000563676.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893617.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000920432.1",
"protein_id": "ENSP00000590491.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920432.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000920433.1",
"protein_id": "ENSP00000590492.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920433.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000951941.1",
"protein_id": "ENSP00000622000.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951941.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000951942.1",
"protein_id": "ENSP00000622001.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951942.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000951943.1",
"protein_id": "ENSP00000622002.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951943.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000951944.1",
"protein_id": "ENSP00000622003.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951944.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000951947.1",
"protein_id": "ENSP00000622006.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 518,
"cds_start": 885,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951947.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.861C>T",
"hgvs_p": "p.Cys287Cys",
"transcript": "ENST00000406053.5",
"protein_id": "ENSP00000385137.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 476,
"cds_start": 861,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406053.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Cys222Cys",
"transcript": "NM_001201965.2",
"protein_id": "NP_001188894.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 445,
"cds_start": 666,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201965.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Cys222Cys",
"transcript": "NM_145863.3",
"protein_id": "NP_665862.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 445,
"cds_start": 666,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145863.3"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Cys222Cys",
"transcript": "ENST00000394717.3",
"protein_id": "ENSP00000378206.2",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 445,
"cds_start": 666,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394717.3"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Cys222Cys",
"transcript": "ENST00000406687.5",
"protein_id": "ENSP00000384728.1",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 445,
"cds_start": 666,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406687.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
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"exon_count": 8,
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"intron_rank_end": null,
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"hgvs_c": "c.636C>T",
"hgvs_p": "p.Cys212Cys",
"transcript": "ENST00000920431.1",
"protein_id": "ENSP00000590490.1",
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"aa_start": 212,
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"aa_length": 435,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920431.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB3",
"gene_hgnc_id": 16013,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys",
"transcript": "ENST00000951946.1",
"protein_id": "ENSP00000622005.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 432,
"cds_start": 885,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951946.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ASB3",
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"hgvs_c": "c.782+2087C>T",
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"transcript": "ENST00000951945.1",
"protein_id": "ENSP00000622004.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951945.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
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"gene_symbol": "ASB3",
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"hgvs_c": "n.1033C>T",
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"transcript": "ENST00000482829.5",
"protein_id": null,
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482829.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "ASB3",
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"hgvs_c": "n.693C>T",
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"transcript": "ENST00000498475.2",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498475.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "ASB3",
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"hgvs_c": "n.*97C>T",
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"transcript": "ENST00000470916.5",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470916.5"
}
],
"gene_symbol": "GPR75-ASB3",
"gene_hgnc_id": 40043,
"dbsnp": "rs781279038",
"frequency_reference_population": 6.8405444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-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": 0.23100000619888306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.231,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.5,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001164165.2",
"gene_symbol": "GPR75-ASB3",
"hgnc_id": 40043,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.999C>T",
"hgvs_p": "p.Cys333Cys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_016115.5",
"gene_symbol": "ASB3",
"hgnc_id": 16013,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Cys295Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}