← 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: 3-9734243-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9734243&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9734243,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant,stop_gained",
"transcript": "ENST00000383829.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001003694.2",
"protein_id": "NP_001003694.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1220,
"cds_start": 105,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": "ENST00000383829.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000383829.7",
"protein_id": "ENSP00000373340.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 1220,
"cds_start": 105,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": "NM_001003694.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000424362.7",
"protein_id": "ENSP00000398863.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 1219,
"cds_start": 105,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000672515.2",
"protein_id": "ENSP00000499951.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1253,
"cds_start": 105,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001437892.1",
"protein_id": "NP_001424821.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1248,
"cds_start": 105,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000683639.1",
"protein_id": "ENSP00000506903.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1248,
"cds_start": 105,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001438342.1",
"protein_id": "NP_001425271.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1247,
"cds_start": 105,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000682208.1",
"protein_id": "ENSP00000508123.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1247,
"cds_start": 105,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000684199.1",
"protein_id": "ENSP00000506921.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1220,
"cds_start": 105,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001410704.1",
"protein_id": "NP_001397633.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1219,
"cds_start": 105,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_004634.3",
"protein_id": "NP_004625.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1214,
"cds_start": 105,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000683743.1",
"protein_id": "ENSP00000507469.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1214,
"cds_start": 105,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 4698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001319050.2",
"protein_id": "NP_001305979.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1213,
"cds_start": 105,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001438343.1",
"protein_id": "NP_001425272.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1213,
"cds_start": 105,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000684333.1",
"protein_id": "ENSP00000508256.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1213,
"cds_start": 105,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000457855.2",
"protein_id": "ENSP00000410210.2",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 1164,
"cds_start": 105,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001438344.1",
"protein_id": "NP_001425273.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1125,
"cds_start": 105,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001438345.1",
"protein_id": "NP_001425274.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1124,
"cds_start": 105,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000682980.1",
"protein_id": "ENSP00000508198.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1124,
"cds_start": 105,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001319049.2",
"protein_id": "NP_001305978.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1119,
"cds_start": 105,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000433861.6",
"protein_id": "ENSP00000402485.2",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 1119,
"cds_start": 105,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "NM_001438346.1",
"protein_id": "NP_001425275.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1118,
"cds_start": 105,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000684206.1",
"protein_id": "ENSP00000507148.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1118,
"cds_start": 105,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000420291.3",
"protein_id": "ENSP00000416728.3",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 660,
"cds_start": 105,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "ENST00000426583.2",
"protein_id": "ENSP00000404235.2",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 660,
"cds_start": 105,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "XM_047448875.1",
"protein_id": "XP_047304831.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1248,
"cds_start": 105,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "XM_047448876.1",
"protein_id": "XP_047304832.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1220,
"cds_start": 105,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs",
"transcript": "XM_047448882.1",
"protein_id": "XP_047304838.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1118,
"cds_start": 105,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.104dupA",
"hgvs_p": null,
"transcript": "ENST00000672126.2",
"protein_id": "ENSP00000500718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.104dupA",
"hgvs_p": null,
"transcript": "ENST00000673551.2",
"protein_id": "ENSP00000500672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.104dupA",
"hgvs_p": null,
"transcript": "ENST00000683423.1",
"protein_id": "ENSP00000507659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.104dupA",
"hgvs_p": null,
"transcript": "ENST00000684223.1",
"protein_id": "ENSP00000506789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.104dupA",
"hgvs_p": null,
"transcript": "ENST00000684608.1",
"protein_id": "ENSP00000507969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"hgvs_c": "n.518dupA",
"hgvs_p": null,
"transcript": "NR_160918.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRPF1",
"gene_hgnc_id": 14255,
"dbsnp": "rs1057519517",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.444,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000383829.7",
"gene_symbol": "BRPF1",
"hgnc_id": 14255,
"effects": [
"frameshift_variant",
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.104dupA",
"hgvs_p": "p.Tyr35fs"
}
],
"clinvar_disease": "Intellectual developmental disorder with dysmorphic facies and ptosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual developmental disorder with dysmorphic facies and ptosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}