← 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: 18-23535505-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23535505&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NPC1",
"hgnc_id": 7897,
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_000271.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_score": -18,
"allele_count_reference_population": 988,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "18",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " type C1,Inborn genetic diseases,NPC1-related disorder,Niemann-Pick disease,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_000271.5",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269228.10",
"protein_coding": true,
"protein_id": "NP_000262.2",
"strand": false,
"transcript": "NM_000271.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000269228.10",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000271.5",
"protein_coding": true,
"protein_id": "ENSP00000269228.4",
"strand": false,
"transcript": "ENST00000269228.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6272,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000897526.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567585.1",
"strand": false,
"transcript": "ENST00000897526.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 3584,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000926494.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596553.1",
"strand": false,
"transcript": "ENST00000926494.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "I",
"aa_start": 1149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 3553,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3447,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000897529.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3447C>T",
"hgvs_p": "p.Ile1149Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567588.1",
"strand": false,
"transcript": "ENST00000897529.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "I",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": 3791,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3429,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000897527.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3429C>T",
"hgvs_p": "p.Ile1143Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567586.1",
"strand": false,
"transcript": "ENST00000897527.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "I",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3429,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000949154.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3429C>T",
"hgvs_p": "p.Ile1143Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619213.1",
"strand": false,
"transcript": "ENST00000949154.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 3623,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000949156.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619215.1",
"strand": false,
"transcript": "ENST00000949156.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "I",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000949157.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3402C>T",
"hgvs_p": "p.Ile1134Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619216.1",
"strand": false,
"transcript": "ENST00000949157.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1263,
"aa_ref": "I",
"aa_start": 1132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 3526,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3396,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000949155.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3396C>T",
"hgvs_p": "p.Ile1132Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619214.1",
"strand": false,
"transcript": "ENST00000949155.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1257,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4614,
"cdna_start": 3580,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000949153.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619212.1",
"strand": false,
"transcript": "ENST00000949153.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "I",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 3511,
"cds_end": null,
"cds_length": 3747,
"cds_start": 3351,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000926493.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3351C>T",
"hgvs_p": "p.Ile1117Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596552.1",
"strand": false,
"transcript": "ENST00000926493.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "I",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 3931,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3318,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000949151.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3318C>T",
"hgvs_p": "p.Ile1106Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619210.1",
"strand": false,
"transcript": "ENST00000949151.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "I",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": 3412,
"cds_end": null,
"cds_length": 3696,
"cds_start": 3300,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000897530.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3300C>T",
"hgvs_p": "p.Ile1100Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567589.1",
"strand": false,
"transcript": "ENST00000897530.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "I",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 3878,
"cds_end": null,
"cds_length": 3669,
"cds_start": 3273,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000949152.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3273C>T",
"hgvs_p": "p.Ile1091Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619211.1",
"strand": false,
"transcript": "ENST00000949152.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "I",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3633,
"cds_start": 3237,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897528.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3237C>T",
"hgvs_p": "p.Ile1079Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567587.1",
"strand": false,
"transcript": "ENST00000897528.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 970,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000591051.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.2517C>T",
"hgvs_p": "p.Ile839Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467636.1",
"strand": false,
"transcript": "ENST00000591051.1",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "I",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": 118,
"cds_end": null,
"cds_length": 537,
"cds_start": 117,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000591107.6",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.117C>T",
"hgvs_p": "p.Ile39Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468438.1",
"strand": false,
"transcript": "ENST00000591107.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 174,
"aa_ref": "I",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": 196,
"cds_end": null,
"cds_length": 525,
"cds_start": 195,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000586150.5",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.195C>T",
"hgvs_p": "p.Ile65Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468321.1",
"strand": false,
"transcript": "ENST00000586150.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4427,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_005258277.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258334.1",
"strand": false,
"transcript": "XM_005258277.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4811,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_005258278.6",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258335.1",
"strand": false,
"transcript": "XM_005258278.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_005258279.3",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258336.1",
"strand": false,
"transcript": "XM_005258279.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5489,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017025784.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881273.1",
"strand": false,
"transcript": "XM_017025784.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_006722479.4",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722542.1",
"strand": false,
"transcript": "XM_006722479.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "I",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017025785.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3492C>T",
"hgvs_p": "p.Ile1164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881274.1",
"strand": false,
"transcript": "XM_017025785.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1264,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5438,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3795,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017025786.2",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881275.1",
"strand": false,
"transcript": "XM_017025786.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5233,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017025787.2",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881276.1",
"strand": false,
"transcript": "XM_017025787.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "I",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5065,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047437539.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "c.3441C>T",
"hgvs_p": "p.Ile1147Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293495.1",
"strand": false,
"transcript": "XM_047437539.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000588867.1",
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588867.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs116436235",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0006122401,
"gene_hgnc_id": 7897,
"gene_symbol": "NPC1",
"gnomad_exomes_ac": 488,
"gnomad_exomes_af": 0.000333908,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 500,
"gnomad_genomes_af": 0.00328373,
"gnomad_genomes_homalt": 4,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 7,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|Niemann-Pick disease, type C1|Inborn genetic diseases|NPC1-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.714,
"pos": 23535505,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000271.5"
}
]
}