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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: 11-18285367-G-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18285367&ref=G&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18285367,
"ref": "G",
"alt": "GTC",
"effect": "frameshift_variant",
"transcript": "NM_001440902.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "NM_181507.2",
"protein_id": "NP_852608.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "ENST00000349215.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181507.2"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "ENST00000349215.8",
"protein_id": "ENSP00000265967.5",
"transcript_support_level": 1,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "NM_181507.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349215.8"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2586_2587dupGA",
"hgvs_p": "p.Thr863fs",
"transcript": "ENST00000396253.7",
"protein_id": "ENSP00000379552.3",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396253.7"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2586_2587dupGA",
"hgvs_p": "p.Thr863fs",
"transcript": "ENST00000438420.6",
"protein_id": "ENSP00000399590.2",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2587,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2863,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438420.6"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "NM_001440902.1",
"protein_id": "NP_001427831.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440902.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "NM_001440903.1",
"protein_id": "NP_001427832.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1156,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440903.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "NM_001440904.1",
"protein_id": "NP_001427833.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440904.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "NM_001440905.1",
"protein_id": "NP_001427834.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440905.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "NM_001440906.1",
"protein_id": "NP_001427835.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440906.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "ENST00000868347.1",
"protein_id": "ENSP00000538406.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868347.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "ENST00000868348.1",
"protein_id": "ENSP00000538407.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3412,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868348.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs",
"transcript": "ENST00000923628.1",
"protein_id": "ENSP00000593687.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 7239,
"cdna_end": null,
"cdna_length": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923628.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2853_2854dupGA",
"hgvs_p": "p.Thr952fs",
"transcript": "NM_001440907.1",
"protein_id": "NP_001427836.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3158,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440907.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2853_2854dupGA",
"hgvs_p": "p.Thr952fs",
"transcript": "NM_001440908.1",
"protein_id": "NP_001427837.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440908.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2853_2854dupGA",
"hgvs_p": "p.Thr952fs",
"transcript": "NM_001440909.1",
"protein_id": "NP_001427838.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1104,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3132,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440909.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2817_2818dupGA",
"hgvs_p": "p.Thr940fs",
"transcript": "NM_001440913.1",
"protein_id": "NP_001427842.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440913.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2817_2818dupGA",
"hgvs_p": "p.Thr940fs",
"transcript": "NM_001440914.1",
"protein_id": "NP_001427843.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440914.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2817_2818dupGA",
"hgvs_p": "p.Thr940fs",
"transcript": "NM_001440915.1",
"protein_id": "NP_001427844.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2818,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440915.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2808_2809dupGA",
"hgvs_p": "p.Thr937fs",
"transcript": "NM_001440916.1",
"protein_id": "NP_001427845.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2809,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440916.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2808_2809dupGA",
"hgvs_p": "p.Thr937fs",
"transcript": "ENST00000868349.1",
"protein_id": "ENSP00000538408.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2809,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868349.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2772_2773dupGA",
"hgvs_p": "p.Thr925fs",
"transcript": "NM_001440917.1",
"protein_id": "NP_001427846.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440917.1"
},
{
"aa_ref": "T",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2742_2743dupGA",
"hgvs_p": "p.Thr915fs",
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],
"exon_rank": 20,
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"exon_count": 21,
"intron_rank": null,
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"protein_id": "XP_047282283.1",
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"aa_start": 977,
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},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "HPS5",
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"transcript": "ENST00000545561.1",
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"biotype": "retained_intron",
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},
{
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"protein_coding": false,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "HPS5",
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"hgvs_c": "n.1228+1222_1228+1223dupGA",
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"transcript": "ENST00000352460.7",
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"cdna_start": null,
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"cdna_length": 1642,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000352460.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.*4_*5dupGA",
"hgvs_p": null,
"transcript": "ENST00000544218.5",
"protein_id": "ENSP00000441781.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544218.5"
}
],
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"dbsnp": "rs397507169",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.85637e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.028,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001440902.1",
"gene_symbol": "HPS5",
"hgnc_id": 17022,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2928_2929dupGA",
"hgvs_p": "p.Thr977fs"
}
],
"clinvar_disease": "Hermansky-Pudlak syndrome 5,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hermansky-Pudlak syndrome 5|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}