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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: 22-49776066-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=49776066&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 49776066,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001304808.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg",
"transcript": "NM_001304808.3",
"protein_id": "NP_001291737.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3215,
"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": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg",
"transcript": "ENST00000404760.6",
"protein_id": "ENSP00000385858.1",
"transcript_support_level": 2,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3215,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "ENST00000216267.12",
"protein_id": "ENSP00000216267.8",
"transcript_support_level": 1,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "ENST00000404034.5",
"protein_id": "ENSP00000384076.1",
"transcript_support_level": 1,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg",
"transcript": "ENST00000457780.3",
"protein_id": "ENSP00000410042.3",
"transcript_support_level": 5,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3215,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg",
"transcript": "ENST00000943548.1",
"protein_id": "ENSP00000613607.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3215,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg",
"transcript": "ENST00000943551.1",
"protein_id": "ENSP00000613610.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3215,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg",
"transcript": "ENST00000943552.1",
"protein_id": "ENSP00000613611.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3215,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "NM_001394548.1",
"protein_id": "NP_001381477.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3209,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "ENST00000896283.1",
"protein_id": "ENSP00000566342.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3209,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "ENST00000935059.1",
"protein_id": "ENSP00000605118.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3209,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3200C>G",
"hgvs_p": "p.Pro1067Arg",
"transcript": "NM_001349941.2",
"protein_id": "NP_001336870.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3200,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3200C>G",
"hgvs_p": "p.Pro1067Arg",
"transcript": "ENST00000943550.1",
"protein_id": "ENSP00000613609.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3200,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3194C>G",
"hgvs_p": "p.Pro1065Arg",
"transcript": "NM_001394549.1",
"protein_id": "NP_001381478.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3194,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2969C>G",
"hgvs_p": "p.Pro990Arg",
"transcript": "NM_001349940.2",
"protein_id": "NP_001336869.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2969,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2846C>G",
"hgvs_p": "p.Pro949Arg",
"transcript": "ENST00000943546.1",
"protein_id": "ENSP00000613605.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2846,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "NM_001304809.1",
"protein_id": "NP_001291738.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "NM_001394551.1",
"protein_id": "NP_001381480.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "NM_001394552.1",
"protein_id": "NP_001381481.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "ENST00000896282.1",
"protein_id": "ENSP00000566341.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "ENST00000935058.1",
"protein_id": "ENSP00000605117.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2822,
"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": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2822C>G",
"hgvs_p": "p.Pro941Arg",
"transcript": "ENST00000935064.1",
"protein_id": "ENSP00000605123.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1058,
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"biotype": "protein_coding",
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},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"transcript": "XM_017028718.2",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "ENST00000438393.6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438393.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
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"gene_symbol": "BRD1",
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"transcript": "ENST00000479985.1",
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"biotype": "retained_intron",
"feature": "ENST00000479985.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "BRD1",
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"transcript": "NR_146334.2",
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"biotype": "pseudogene",
"feature": "NR_146334.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "BRD1",
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"hgvs_c": "n.3921C>G",
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"biotype": "pseudogene",
"feature": "NR_146335.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"gene_symbol": "BRD1",
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"transcript": "ENST00000438393.6",
"protein_id": "ENSP00000388027.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438393.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "BRD1",
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"hgvs_c": "n.*5C>G",
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"transcript": "XR_007067961.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067961.1"
}
],
"gene_symbol": "BRD1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9012612104415894,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.647,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.673,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001304808.3",
"gene_symbol": "BRD1",
"hgnc_id": 1102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3215C>G",
"hgvs_p": "p.Pro1072Arg"
}
],
"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
}