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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: 22-49774268-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=49774268&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 49774268,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001304808.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg",
"transcript": "NM_001304808.3",
"protein_id": "NP_001291737.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404760.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304808.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg",
"transcript": "ENST00000404760.6",
"protein_id": "ENSP00000385858.1",
"transcript_support_level": 2,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304808.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404760.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "ENST00000216267.12",
"protein_id": "ENSP00000216267.8",
"transcript_support_level": 1,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216267.12"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "ENST00000404034.5",
"protein_id": "ENSP00000384076.1",
"transcript_support_level": 1,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404034.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg",
"transcript": "ENST00000457780.3",
"protein_id": "ENSP00000410042.3",
"transcript_support_level": 5,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457780.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg",
"transcript": "ENST00000943548.1",
"protein_id": "ENSP00000613607.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943548.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg",
"transcript": "ENST00000943551.1",
"protein_id": "ENSP00000613610.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943551.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg",
"transcript": "ENST00000943552.1",
"protein_id": "ENSP00000613611.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943552.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3529G>A",
"hgvs_p": "p.Gly1177Arg",
"transcript": "NM_001394548.1",
"protein_id": "NP_001381477.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394548.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3529G>A",
"hgvs_p": "p.Gly1177Arg",
"transcript": "ENST00000896283.1",
"protein_id": "ENSP00000566342.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896283.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3529G>A",
"hgvs_p": "p.Gly1177Arg",
"transcript": "ENST00000935059.1",
"protein_id": "ENSP00000605118.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935059.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3520G>A",
"hgvs_p": "p.Gly1174Arg",
"transcript": "NM_001349941.2",
"protein_id": "NP_001336870.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3520,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349941.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3520G>A",
"hgvs_p": "p.Gly1174Arg",
"transcript": "ENST00000943550.1",
"protein_id": "ENSP00000613609.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3520,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943550.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Gly1172Arg",
"transcript": "NM_001394549.1",
"protein_id": "NP_001381478.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3514,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394549.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3289G>A",
"hgvs_p": "p.Gly1097Arg",
"transcript": "NM_001349940.2",
"protein_id": "NP_001336869.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349940.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3166G>A",
"hgvs_p": "p.Gly1056Arg",
"transcript": "ENST00000943546.1",
"protein_id": "ENSP00000613605.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3166,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943546.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "NM_001304809.1",
"protein_id": "NP_001291738.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304809.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "NM_001394551.1",
"protein_id": "NP_001381480.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394551.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "NM_001394552.1",
"protein_id": "NP_001381481.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394552.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "ENST00000896282.1",
"protein_id": "ENSP00000566341.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896282.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "ENST00000935058.1",
"protein_id": "ENSP00000605117.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935058.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3142G>A",
"hgvs_p": "p.Gly1048Arg",
"transcript": "ENST00000935064.1",
"protein_id": "ENSP00000605123.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1058,
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"transcript": "XM_047441277.1",
"protein_id": "XP_047297233.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441277.1"
},
{
"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": "BRD1",
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"hgvs_c": "c.3037G>A",
"hgvs_p": "p.Gly1013Arg",
"transcript": "XM_017028718.2",
"protein_id": "XP_016884207.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028718.2"
},
{
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.*536G>A",
"hgvs_p": null,
"transcript": "ENST00000438393.6",
"protein_id": "ENSP00000388027.2",
"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": "ENST00000438393.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.3844G>A",
"hgvs_p": null,
"transcript": "NR_146334.2",
"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_146334.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.4241G>A",
"hgvs_p": null,
"transcript": "NR_146335.2",
"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_146335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.*536G>A",
"hgvs_p": null,
"transcript": "ENST00000438393.6",
"protein_id": "ENSP00000388027.2",
"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": "ENST00000438393.6"
}
],
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"dbsnp": "rs1489931543",
"frequency_reference_population": 0.0000055762357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000410466,
"gnomad_genomes_af": 0.000019706,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4332354962825775,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.731,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001304808.3",
"gene_symbol": "BRD1",
"hgnc_id": 1102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3535G>A",
"hgvs_p": "p.Gly1179Arg"
}
],
"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
}