← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-9739303-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9739303&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "BRPF1",
"hgnc_id": 14255,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001437892.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Intellectual developmental disorder with dysmorphic facies and ptosis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3663,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001003694.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000383829.7",
"protein_coding": true,
"protein_id": "NP_001003694.1",
"strand": true,
"transcript": "NM_001003694.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3663,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000383829.7",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001003694.2",
"protein_coding": true,
"protein_id": "ENSP00000373340.2",
"strand": true,
"transcript": "ENST00000383829.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4604,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 3660,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424362.7",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398863.2",
"strand": true,
"transcript": "ENST00000424362.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 3765,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919141.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589200.1",
"strand": true,
"transcript": "ENST00000919141.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4314,
"cdna_start": 914,
"cds_end": null,
"cds_length": 3762,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000672515.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499951.2",
"strand": true,
"transcript": "ENST00000672515.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4827,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3747,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437892.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424821.1",
"strand": true,
"transcript": "NM_001437892.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 3747,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000683639.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506903.1",
"strand": true,
"transcript": "ENST00000683639.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3744,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438342.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425271.1",
"strand": true,
"transcript": "NM_001438342.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4420,
"cdna_start": 914,
"cds_end": null,
"cds_length": 3744,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682208.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508123.1",
"strand": true,
"transcript": "ENST00000682208.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 3663,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684199.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506921.1",
"strand": true,
"transcript": "ENST00000684199.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3660,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410704.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397633.1",
"strand": true,
"transcript": "NM_001410704.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6700,
"cdna_start": 3300,
"cds_end": null,
"cds_length": 3660,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971788.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641847.1",
"strand": true,
"transcript": "ENST00000971788.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4725,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3645,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004634.3",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004625.2",
"strand": true,
"transcript": "NM_004634.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4698,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 3645,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000683743.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507469.1",
"strand": true,
"transcript": "ENST00000683743.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 3645,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879789.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549848.1",
"strand": true,
"transcript": "ENST00000879789.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4722,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3642,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001319050.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305979.1",
"strand": true,
"transcript": "NM_001319050.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 3642,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438343.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425272.1",
"strand": true,
"transcript": "NM_001438343.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 3642,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684333.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508256.1",
"strand": true,
"transcript": "ENST00000684333.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4803,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 3642,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919142.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589201.1",
"strand": true,
"transcript": "ENST00000919142.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": 914,
"cds_end": null,
"cds_length": 3495,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000457855.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410210.2",
"strand": true,
"transcript": "ENST00000457855.2",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 2543,
"cds_end": null,
"cds_length": 3480,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919139.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589198.1",
"strand": true,
"transcript": "ENST00000919139.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 3480,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919143.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589202.1",
"strand": true,
"transcript": "ENST00000919143.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 3477,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919137.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589196.1",
"strand": true,
"transcript": "ENST00000919137.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 3462,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919140.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589199.1",
"strand": true,
"transcript": "ENST00000919140.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 3459,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919138.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589197.1",
"strand": true,
"transcript": "ENST00000919138.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4458,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3378,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438344.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425273.1",
"strand": true,
"transcript": "NM_001438344.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 3378,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879788.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549847.1",
"strand": true,
"transcript": "ENST00000879788.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3375,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438345.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425274.1",
"strand": true,
"transcript": "NM_001438345.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 914,
"cds_end": null,
"cds_length": 3375,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000682980.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508198.1",
"strand": true,
"transcript": "ENST00000682980.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3360,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001319049.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305978.1",
"strand": true,
"transcript": "NM_001319049.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 3360,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000433861.6",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402485.2",
"strand": true,
"transcript": "ENST00000433861.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 3357,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438346.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425275.1",
"strand": true,
"transcript": "NM_001438346.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 3357,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684206.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507148.1",
"strand": true,
"transcript": "ENST00000684206.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 3228,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919144.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589203.1",
"strand": true,
"transcript": "ENST00000919144.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 660,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1983,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000420291.3",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416728.3",
"strand": true,
"transcript": "ENST00000420291.3",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 660,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1983,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000426583.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404235.2",
"strand": true,
"transcript": "ENST00000426583.2",
"transcript_support_level": 4
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 3747,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448875.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304831.1",
"strand": true,
"transcript": "XM_047448875.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 3663,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448876.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304832.1",
"strand": true,
"transcript": "XM_047448876.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "Q",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 3357,
"cds_start": 904,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448882.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Gln302*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304838.1",
"strand": true,
"transcript": "XM_047448882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000672126.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500718.1",
"strand": true,
"transcript": "ENST00000672126.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4333,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000673551.2",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500672.1",
"strand": true,
"transcript": "ENST00000673551.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683423.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507659.1",
"strand": true,
"transcript": "ENST00000683423.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000684223.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506789.1",
"strand": true,
"transcript": "ENST00000684223.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684608.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507969.1",
"strand": true,
"transcript": "ENST00000684608.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_160918.1",
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"hgvs_c": "n.1318C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_160918.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1553695017",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 14255,
"gene_symbol": "BRPF1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Intellectual developmental disorder with dysmorphic facies and ptosis",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 9739303,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001437892.1"
}
]
}