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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: 6-36200381-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36200381&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36200381,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015695.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "NM_015695.3",
"protein_id": "NP_056510.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1205,
"cds_start": 59,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357641.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015695.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000357641.10",
"protein_id": "ENSP00000350267.6",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1205,
"cds_start": 59,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015695.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357641.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926626.1",
"protein_id": "ENSP00000596685.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1205,
"cds_start": 59,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926626.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926627.1",
"protein_id": "ENSP00000596686.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1205,
"cds_start": 59,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926627.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000968964.1",
"protein_id": "ENSP00000639023.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1205,
"cds_start": 59,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968964.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926624.1",
"protein_id": "ENSP00000596683.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1190,
"cds_start": 59,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926624.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926623.1",
"protein_id": "ENSP00000596682.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1152,
"cds_start": 59,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926623.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000534400.5",
"protein_id": "ENSP00000436504.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1106,
"cds_start": 59,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534400.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926629.1",
"protein_id": "ENSP00000596688.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 59,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926629.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000968965.1",
"protein_id": "ENSP00000639024.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 59,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968965.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926625.1",
"protein_id": "ENSP00000596684.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1036,
"cds_start": 59,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926625.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000339717.11",
"protein_id": "ENSP00000345419.7",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 935,
"cds_start": 59,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339717.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000926628.1",
"protein_id": "ENSP00000596687.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 935,
"cds_start": 59,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926628.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000534694.5",
"protein_id": "ENSP00000434501.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 871,
"cds_start": 59,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534694.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000454960.1",
"protein_id": "ENSP00000413655.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 128,
"cds_start": 59,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454960.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "ENST00000446974.1",
"protein_id": "ENSP00000410669.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 94,
"cds_start": 59,
"cds_end": null,
"cds_length": 286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446974.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "XM_047418649.1",
"protein_id": "XP_047274605.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1205,
"cds_start": 59,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418649.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "XM_011514490.2",
"protein_id": "XP_011512792.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1144,
"cds_start": 59,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514490.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "XM_011514491.2",
"protein_id": "XP_011512793.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1131,
"cds_start": 59,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514491.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "XM_047418650.1",
"protein_id": "XP_047274606.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 59,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418650.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "XM_011514492.2",
"protein_id": "XP_011512794.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 832,
"cds_start": 59,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514492.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu",
"transcript": "XM_047418651.1",
"protein_id": "XP_047274607.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 626,
"cds_start": 59,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 11,
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"gene_symbol": "BRPF3",
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"hgvs_c": "n.59C>T",
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"transcript": "ENST00000449261.6",
"protein_id": "ENSP00000416842.2",
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"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449261.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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"gene_symbol": "BRPF3",
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"hgvs_c": "n.59C>T",
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"transcript": "ENST00000532330.5",
"protein_id": "ENSP00000437087.1",
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532330.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
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"transcript": "ENST00000816545.1",
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816545.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "BRPF3-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000816546.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
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"hgvs_c": "n.76+490G>A",
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"biotype": "pseudogene",
"feature": "ENST00000816547.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
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"hgvs_c": "n.79+490G>A",
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"transcript": "ENST00000816548.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816548.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
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"hgvs_c": "n.70+490G>A",
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"transcript": "ENST00000816549.1",
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000816549.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BRPF3-AS1",
"gene_hgnc_id": 55591,
"hgvs_c": "n.72+490G>A",
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"transcript": "ENST00000816550.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000816550.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"hgvs_c": "n.-26C>T",
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"transcript": "ENST00000441123.1",
"protein_id": "ENSP00000411558.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441123.1"
}
],
"gene_symbol": "BRPF3",
"gene_hgnc_id": 14256,
"dbsnp": "rs199876915",
"frequency_reference_population": 0.000010531258,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000131273,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.501249372959137,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.8185,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.52,
"phylop100way_prediction": "Uncertain_significance",
"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_015695.3",
"gene_symbol": "BRPF3",
"hgnc_id": 14256,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Pro20Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000816545.1",
"gene_symbol": "BRPF3-AS1",
"hgnc_id": 55591,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+490G>A",
"hgvs_p": null
}
],
"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
}