← 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: 13-48707013-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48707013&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48707013,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020377.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308476.3",
"protein_id": "NP_001295405.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682523.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308476.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000682523.1",
"protein_id": "ENSP00000508181.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308476.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682523.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000614739.4",
"protein_id": "ENSP00000477930.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614739.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308465.3",
"protein_id": "NP_001295394.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308465.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308467.3",
"protein_id": "NP_001295396.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308467.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308468.3",
"protein_id": "NP_001295397.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308468.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308469.3",
"protein_id": "NP_001295398.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308469.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308470.3",
"protein_id": "NP_001295399.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308470.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001308471.3",
"protein_id": "NP_001295400.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308471.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001387012.1",
"protein_id": "NP_001373941.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387012.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001387013.1",
"protein_id": "NP_001373942.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387013.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_001387014.1",
"protein_id": "NP_001373943.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387014.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "NM_020377.5",
"protein_id": "NP_065110.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020377.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000282018.4",
"protein_id": "ENSP00000282018.3",
"transcript_support_level": 6,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282018.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000859943.1",
"protein_id": "ENSP00000530002.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859943.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000859944.1",
"protein_id": "ENSP00000530003.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859944.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000859945.1",
"protein_id": "ENSP00000530004.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859945.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000859946.1",
"protein_id": "ENSP00000530005.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859946.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000859947.1",
"protein_id": "ENSP00000530006.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859947.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000859948.1",
"protein_id": "ENSP00000530007.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859948.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000945011.1",
"protein_id": "ENSP00000615070.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945011.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000945012.1",
"protein_id": "ENSP00000615071.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945012.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000945013.1",
"protein_id": "ENSP00000615072.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945013.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "ENST00000945014.1",
"protein_id": "ENSP00000615073.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 346,
"cds_start": 196,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945014.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.*152C>T",
"hgvs_p": null,
"transcript": "ENST00000617562.4",
"protein_id": "ENSP00000482041.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 44,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617562.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.*152C>T",
"hgvs_p": null,
"transcript": "ENST00000621321.1",
"protein_id": "ENSP00000482031.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 44,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"hgvs_c": "c.*152C>T",
"hgvs_p": null,
"transcript": "ENST00000622559.4",
"protein_id": "ENSP00000479446.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 44,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622559.4"
}
],
"gene_symbol": "CYSLTR2",
"gene_hgnc_id": 18274,
"dbsnp": "rs200821619",
"frequency_reference_population": 0.000076827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 124,
"gnomad_exomes_af": 0.00007935,
"gnomad_genomes_af": 0.0000525838,
"gnomad_exomes_ac": 116,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06205502152442932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1617,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.309,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020377.5",
"gene_symbol": "CYSLTR2",
"hgnc_id": 18274,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser"
}
],
"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
}