← 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: 11-18281986-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18281986&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18281986,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000349215.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "NM_181507.2",
"protein_id": "NP_852608.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "ENST00000349215.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "ENST00000349215.8",
"protein_id": "ENSP00000265967.5",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": "NM_181507.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "ENST00000396253.7",
"protein_id": "ENSP00000379552.3",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "ENST00000438420.6",
"protein_id": "ENSP00000399590.2",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "NM_001440902.1",
"protein_id": "NP_001427831.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "NM_001440903.1",
"protein_id": "NP_001427832.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3406,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3350C>T",
"hgvs_p": "p.Thr1117Ile",
"transcript": "NM_001440904.1",
"protein_id": "NP_001427833.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "NM_001440905.1",
"protein_id": "NP_001427834.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3406,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "NM_001440906.1",
"protein_id": "NP_001427835.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Thr1073Ile",
"transcript": "NM_001440907.1",
"protein_id": "NP_001427836.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Thr1073Ile",
"transcript": "NM_001440908.1",
"protein_id": "NP_001427837.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3653,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3218C>T",
"hgvs_p": "p.Thr1073Ile",
"transcript": "NM_001440909.1",
"protein_id": "NP_001427838.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3182C>T",
"hgvs_p": "p.Thr1061Ile",
"transcript": "NM_001440913.1",
"protein_id": "NP_001427842.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3426,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3182C>T",
"hgvs_p": "p.Thr1061Ile",
"transcript": "NM_001440914.1",
"protein_id": "NP_001427843.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3182C>T",
"hgvs_p": "p.Thr1061Ile",
"transcript": "NM_001440915.1",
"protein_id": "NP_001427844.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3239,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3173C>T",
"hgvs_p": "p.Thr1058Ile",
"transcript": "NM_001440916.1",
"protein_id": "NP_001427845.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1089,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3137C>T",
"hgvs_p": "p.Thr1046Ile",
"transcript": "NM_001440917.1",
"protein_id": "NP_001427846.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1077,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3107C>T",
"hgvs_p": "p.Thr1036Ile",
"transcript": "NM_001440918.1",
"protein_id": "NP_001427847.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 4845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3080C>T",
"hgvs_p": "p.Thr1027Ile",
"transcript": "NM_001440919.1",
"protein_id": "NP_001427848.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3080,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_001440920.1",
"protein_id": "NP_001427849.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_001440921.1",
"protein_id": "NP_001427850.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3193,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_001440922.1",
"protein_id": "NP_001427851.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_001440923.1",
"protein_id": "NP_001427852.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3008C>T",
"hgvs_p": "p.Thr1003Ile",
"transcript": "NM_001440924.1",
"protein_id": "NP_001427853.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3008,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_001440925.1",
"protein_id": "NP_001427854.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3249,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_001440926.1",
"protein_id": "NP_001427855.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_007216.4",
"protein_id": "NP_009147.3",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2951C>T",
"hgvs_p": "p.Thr984Ile",
"transcript": "NM_181508.2",
"protein_id": "NP_852609.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 3193,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2879C>T",
"hgvs_p": "p.Thr960Ile",
"transcript": "NM_001440927.1",
"protein_id": "NP_001427856.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 991,
"cds_start": 2879,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2879C>T",
"hgvs_p": "p.Thr960Ile",
"transcript": "NM_001440928.1",
"protein_id": "NP_001427857.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 991,
"cds_start": 2879,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2879C>T",
"hgvs_p": "p.Thr960Ile",
"transcript": "NM_001440929.1",
"protein_id": "NP_001427858.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 991,
"cds_start": 2879,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 3010,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2831C>T",
"hgvs_p": "p.Thr944Ile",
"transcript": "NM_001440930.1",
"protein_id": "NP_001427859.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 975,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.2438C>T",
"hgvs_p": "p.Thr813Ile",
"transcript": "NM_001440931.1",
"protein_id": "NP_001427860.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 844,
"cds_start": 2438,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Thr205Ile",
"transcript": "ENST00000537258.1",
"protein_id": "ENSP00000437437.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 263,
"cds_start": 614,
"cds_end": null,
"cds_length": 792,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile",
"transcript": "XM_011519864.2",
"protein_id": "XP_011518166.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3384,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3182C>T",
"hgvs_p": "p.Thr1061Ile",
"transcript": "XM_011519865.2",
"protein_id": "XP_011518167.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3426,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3182C>T",
"hgvs_p": "p.Thr1061Ile",
"transcript": "XM_017017151.3",
"protein_id": "XP_016872640.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.3182C>T",
"hgvs_p": "p.Thr1061Ile",
"transcript": "XM_047426324.1",
"protein_id": "XP_047282280.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "n.1570C>T",
"hgvs_p": null,
"transcript": "ENST00000352460.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.*129C>T",
"hgvs_p": null,
"transcript": "XM_047426326.1",
"protein_id": "XP_047282282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": -4,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"dbsnp": "rs61884288",
"frequency_reference_population": 0.03312632,
"hom_count_reference_population": 1023,
"allele_count_reference_population": 53468,
"gnomad_exomes_af": 0.0341204,
"gnomad_genomes_af": 0.0235809,
"gnomad_exomes_ac": 49878,
"gnomad_genomes_ac": 3590,
"gnomad_exomes_homalt": 966,
"gnomad_genomes_homalt": 57,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01369139552116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1371,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.177,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000349215.8",
"gene_symbol": "HPS5",
"hgnc_id": 17022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3293C>T",
"hgvs_p": "p.Thr1098Ile"
}
],
"clinvar_disease": "Hermansky-Pudlak syndrome 5,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:7",
"phenotype_combined": "Hermansky-Pudlak syndrome 5|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}