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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: 11-18296807-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18296807&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18296807,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440902.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_181507.2",
"protein_id": "NP_852608.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349215.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181507.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000349215.8",
"protein_id": "ENSP00000265967.5",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181507.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349215.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Gly387Arg",
"transcript": "ENST00000396253.7",
"protein_id": "ENSP00000379552.3",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1159,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396253.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Gly387Arg",
"transcript": "ENST00000438420.6",
"protein_id": "ENSP00000399590.2",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1159,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438420.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440902.1",
"protein_id": "NP_001427831.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440902.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440903.1",
"protein_id": "NP_001427832.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1156,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440903.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440904.1",
"protein_id": "NP_001427833.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440904.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440905.1",
"protein_id": "NP_001427834.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440905.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440906.1",
"protein_id": "NP_001427835.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440906.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000868347.1",
"protein_id": "ENSP00000538406.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868347.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000868348.1",
"protein_id": "ENSP00000538407.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868348.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000923628.1",
"protein_id": "ENSP00000593687.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923628.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "NM_001440907.1",
"protein_id": "NP_001427836.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1426,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440907.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "NM_001440908.1",
"protein_id": "NP_001427837.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1426,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440908.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Arg",
"transcript": "NM_001440909.1",
"protein_id": "NP_001427838.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1426,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440909.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Gly464Arg",
"transcript": "NM_001440913.1",
"protein_id": "NP_001427842.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1390,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440913.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Gly464Arg",
"transcript": "NM_001440914.1",
"protein_id": "NP_001427843.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1390,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440914.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Gly464Arg",
"transcript": "NM_001440915.1",
"protein_id": "NP_001427844.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1390,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440915.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440916.1",
"protein_id": "NP_001427845.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440916.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000868349.1",
"protein_id": "ENSP00000538408.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868349.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001440917.1",
"protein_id": "NP_001427846.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1077,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440917.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001440918.1",
"protein_id": "NP_001427847.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 1067,
"cds_start": 1315,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047426327.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "XM_047426328.1",
"protein_id": "XP_047282284.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 645,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426328.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "XM_047426329.1",
"protein_id": "XP_047282285.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 619,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426329.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "XM_047426330.1",
"protein_id": "XP_047282286.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 595,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426330.1"
}
],
"gene_symbol": "HPS5",
"gene_hgnc_id": 17022,
"dbsnp": "rs143784823",
"frequency_reference_population": 0.0033569355,
"hom_count_reference_population": 36,
"allele_count_reference_population": 5418,
"gnomad_exomes_af": 0.00329129,
"gnomad_genomes_af": 0.00398723,
"gnomad_exomes_ac": 4811,
"gnomad_genomes_ac": 607,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003935277462005615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.517,
"phylop100way_prediction": "Benign",
"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": "NM_001440902.1",
"gene_symbol": "HPS5",
"hgnc_id": 17022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg"
}
],
"clinvar_disease": "HPS5-related disorder,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:3 B:3",
"phenotype_combined": "Hermansky-Pudlak syndrome 5|not provided|not specified|HPS5-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}