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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: 18-23540528-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23540528&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23540528,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000271.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu",
"transcript": "NM_000271.5",
"protein_id": "NP_000262.2",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269228.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000271.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu",
"transcript": "ENST00000269228.10",
"protein_id": "ENSP00000269228.4",
"transcript_support_level": 1,
"aa_start": 842,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269228.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "ENST00000897526.1",
"protein_id": "ENSP00000567585.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897526.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu",
"transcript": "ENST00000926494.1",
"protein_id": "ENSP00000596553.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1293,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926494.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2530T>C",
"hgvs_p": "p.Phe844Leu",
"transcript": "ENST00000897529.1",
"protein_id": "ENSP00000567588.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1280,
"cds_start": 2530,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897529.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2512T>C",
"hgvs_p": "p.Phe838Leu",
"transcript": "ENST00000897527.1",
"protein_id": "ENSP00000567586.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1274,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897527.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2512T>C",
"hgvs_p": "p.Phe838Leu",
"transcript": "ENST00000949154.1",
"protein_id": "ENSP00000619213.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1274,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949154.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "ENST00000949156.1",
"protein_id": "ENSP00000619215.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1274,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949156.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2479T>C",
"hgvs_p": "p.Phe827Leu",
"transcript": "ENST00000949155.1",
"protein_id": "ENSP00000619214.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1263,
"cds_start": 2479,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949155.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu",
"transcript": "ENST00000949153.1",
"protein_id": "ENSP00000619212.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949153.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2401T>C",
"hgvs_p": "p.Phe801Leu",
"transcript": "ENST00000949151.1",
"protein_id": "ENSP00000619210.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2401,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949151.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2383T>C",
"hgvs_p": "p.Phe795Leu",
"transcript": "ENST00000897530.1",
"protein_id": "ENSP00000567589.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1231,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897530.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2356T>C",
"hgvs_p": "p.Phe786Leu",
"transcript": "ENST00000949152.1",
"protein_id": "ENSP00000619211.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949152.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2320T>C",
"hgvs_p": "p.Phe774Leu",
"transcript": "ENST00000897528.1",
"protein_id": "ENSP00000567587.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2320,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897528.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.1600T>C",
"hgvs_p": "p.Phe534Leu",
"transcript": "ENST00000591051.1",
"protein_id": "ENSP00000467636.1",
"transcript_support_level": 2,
"aa_start": 534,
"aa_end": null,
"aa_length": 970,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591051.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "XM_005258277.1",
"protein_id": "XP_005258334.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258277.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "XM_005258278.6",
"protein_id": "XP_005258335.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258278.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu",
"transcript": "XM_005258279.3",
"protein_id": "XP_005258336.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1286,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258279.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "XM_017025784.1",
"protein_id": "XP_016881273.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025784.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "XM_006722479.4",
"protein_id": "XP_006722542.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722479.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2575T>C",
"hgvs_p": "p.Phe859Leu",
"transcript": "XM_017025785.1",
"protein_id": "XP_016881274.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025785.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu",
"transcript": "XM_017025786.2",
"protein_id": "XP_016881275.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1264,
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{
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{
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{
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{
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{
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{
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"biotype": "retained_intron",
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],
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"dbsnp": "rs190298665",
"frequency_reference_population": 0.000029185549,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000123454,
"gnomad_genomes_af": 0.000190351,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6527155041694641,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9855,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.09,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM5,PP2,PP5",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM5",
"PP2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000271.5",
"gene_symbol": "NPC1",
"hgnc_id": 7897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2524T>C",
"hgvs_p": "p.Phe842Leu"
}
],
"clinvar_disease": " type C1,NPC1-related disorder,Niemann-Pick disease,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 US:3",
"phenotype_combined": "not provided|Niemann-Pick disease, type C1|NPC1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}