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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: 16-75230019-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75230019&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75230019,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001170714.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "NM_014567.5",
"protein_id": "NP_055382.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 870,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000162330.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014567.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "ENST00000162330.10",
"protein_id": "ENSP00000162330.5",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 870,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014567.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000162330.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "n.1710A>G",
"hgvs_p": null,
"transcript": "ENST00000563038.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000563038.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.Lys748Arg",
"transcript": "NM_001170714.3",
"protein_id": "NP_001164185.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 916,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170714.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.Lys748Arg",
"transcript": "ENST00000418647.7",
"protein_id": "ENSP00000391669.3",
"transcript_support_level": 2,
"aa_start": 748,
"aa_end": null,
"aa_length": 916,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418647.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Lys723Arg",
"transcript": "ENST00000853597.1",
"protein_id": "ENSP00000523656.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 891,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853597.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "NM_001170715.3",
"protein_id": "NP_001164186.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 888,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170715.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "NM_001170716.3",
"protein_id": "NP_001164187.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 888,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170716.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "NM_001170717.3",
"protein_id": "NP_001164188.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 888,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170717.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "ENST00000393420.10",
"protein_id": "ENSP00000377072.6",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 888,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393420.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "ENST00000393422.6",
"protein_id": "ENSP00000377074.2",
"transcript_support_level": 2,
"aa_start": 720,
"aa_end": null,
"aa_length": 888,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393422.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.Lys720Arg",
"transcript": "ENST00000420641.7",
"protein_id": "ENSP00000392708.3",
"transcript_support_level": 2,
"aa_start": 720,
"aa_end": null,
"aa_length": 888,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420641.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2123A>G",
"hgvs_p": "p.Lys708Arg",
"transcript": "ENST00000942293.1",
"protein_id": "ENSP00000612352.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 876,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942293.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "NM_001170718.3",
"protein_id": "NP_001164189.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 870,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170718.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Lys702Arg",
"transcript": "ENST00000538440.6",
"protein_id": "ENSP00000443841.2",
"transcript_support_level": 2,
"aa_start": 702,
"aa_end": null,
"aa_length": 870,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538440.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Lys700Arg",
"transcript": "NM_001170719.3",
"protein_id": "NP_001164190.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 868,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170719.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Lys700Arg",
"transcript": "ENST00000542031.6",
"protein_id": "ENSP00000440415.2",
"transcript_support_level": 2,
"aa_start": 700,
"aa_end": null,
"aa_length": 868,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542031.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.2012A>G",
"hgvs_p": "p.Lys671Arg",
"transcript": "ENST00000942294.1",
"protein_id": "ENSP00000612353.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 839,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942294.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Lys609Arg",
"transcript": "ENST00000853596.1",
"protein_id": "ENSP00000523655.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 777,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853596.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Lys554Arg",
"transcript": "NM_001170720.3",
"protein_id": "NP_001164191.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 722,
"cds_start": 1661,
"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_001170720.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Lys554Arg",
"transcript": "ENST00000535626.6",
"protein_id": "ENSP00000440370.2",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 722,
"cds_start": 1661,
"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": "ENST00000535626.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Lys554Arg",
"transcript": "ENST00000853598.1",
"protein_id": "ENSP00000523657.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 722,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000853598.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"hgvs_p": "p.Lys495Arg",
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"biotype": "protein_coding",
"feature": "ENST00000928348.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 6,
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"gene_symbol": "BCAR1",
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"hgvs_c": "c.1475A>G",
"hgvs_p": "p.Lys492Arg",
"transcript": "NM_001170721.3",
"protein_id": "NP_001164192.1",
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"biotype": "protein_coding",
"feature": "NM_001170721.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 5,
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"gene_symbol": "BCAR1",
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"hgvs_c": "c.1382A>G",
"hgvs_p": "p.Lys461Arg",
"transcript": "ENST00000942292.1",
"protein_id": "ENSP00000612351.1",
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"aa_start": 461,
"aa_end": null,
"aa_length": 629,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942292.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "BCAR1",
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"hgvs_c": "c.2101-2A>G",
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"transcript": "ENST00000928349.1",
"protein_id": "ENSP00000598408.1",
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"aa_end": null,
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"cds_length": 2607,
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"biotype": "protein_coding",
"feature": "ENST00000928349.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
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"gene_symbol": "BCAR1",
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"transcript": "ENST00000942295.1",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000942295.1"
},
{
"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": 7,
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"gene_symbol": "BCAR1",
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"hgvs_c": "n.*2782A>G",
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"transcript": "ENST00000562556.5",
"protein_id": "ENSP00000455166.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562556.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "BCAR1",
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"hgvs_c": "n.2042A>G",
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"transcript": "ENST00000566982.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000566982.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"hgvs_c": "n.*2782A>G",
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"transcript": "ENST00000562556.5",
"protein_id": "ENSP00000455166.1",
"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": "ENST00000562556.5"
}
],
"gene_symbol": "BCAR1",
"gene_hgnc_id": 971,
"dbsnp": "rs764493965",
"frequency_reference_population": 0.0000039176152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000144992,
"gnomad_genomes_af": 0.0000262881,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19403937458992004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.848,
"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_001170714.3",
"gene_symbol": "BCAR1",
"hgnc_id": 971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.Lys748Arg"
}
],
"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
}