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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: 20-33417894-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33417894&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33417894,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003098.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "NM_003098.3",
"protein_id": "NP_003089.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 505,
"cds_start": 526,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217381.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003098.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000217381.3",
"protein_id": "ENSP00000217381.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 505,
"cds_start": 526,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003098.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217381.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Phe217Leu",
"transcript": "ENST00000953204.1",
"protein_id": "ENSP00000623263.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 546,
"cds_start": 649,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953204.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Phe199Leu",
"transcript": "ENST00000953205.1",
"protein_id": "ENSP00000623264.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 528,
"cds_start": 595,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953205.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953203.1",
"protein_id": "ENSP00000623262.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 515,
"cds_start": 526,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953203.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000880503.1",
"protein_id": "ENSP00000550562.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 512,
"cds_start": 526,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880503.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953201.1",
"protein_id": "ENSP00000623260.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 511,
"cds_start": 526,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953201.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953206.1",
"protein_id": "ENSP00000623265.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 510,
"cds_start": 526,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953206.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953198.1",
"protein_id": "ENSP00000623257.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 509,
"cds_start": 526,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953198.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "NM_001424413.1",
"protein_id": "NP_001411342.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 504,
"cds_start": 526,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424413.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000880497.1",
"protein_id": "ENSP00000550556.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 504,
"cds_start": 526,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880497.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000880499.1",
"protein_id": "ENSP00000550558.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 498,
"cds_start": 526,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880499.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "NM_001424414.1",
"protein_id": "NP_001411343.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 496,
"cds_start": 526,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424414.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000880502.1",
"protein_id": "ENSP00000550561.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 489,
"cds_start": 526,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880502.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000880500.1",
"protein_id": "ENSP00000550559.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880500.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953199.1",
"protein_id": "ENSP00000623258.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 475,
"cds_start": 526,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953199.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953202.1",
"protein_id": "ENSP00000623261.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 472,
"cds_start": 526,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953202.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000880498.1",
"protein_id": "ENSP00000550557.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 470,
"cds_start": 526,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880498.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953197.1",
"protein_id": "ENSP00000623256.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 469,
"cds_start": 526,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953197.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000953207.1",
"protein_id": "ENSP00000623266.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 469,
"cds_start": 526,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953207.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.340T>C",
"hgvs_p": "p.Phe114Leu",
"transcript": "ENST00000880501.1",
"protein_id": "ENSP00000550560.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 443,
"cds_start": 340,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880501.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "XM_011529008.2",
"protein_id": "XP_011527310.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 495,
"cds_start": 526,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
"aa_ref": "F",
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 7,
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"gene_symbol": "SNTA1",
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"hgvs_p": "p.Phe176Leu",
"transcript": "XM_047440392.1",
"protein_id": "XP_047296348.1",
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"aa_start": 176,
"aa_end": null,
"aa_length": 476,
"cds_start": 526,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440392.1"
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Phe67Leu",
"transcript": "XM_024451971.2",
"protein_id": "XP_024307739.1",
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"aa_start": 67,
"aa_end": null,
"aa_length": 396,
"cds_start": 199,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451971.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.497-9006T>C",
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"transcript": "ENST00000953200.1",
"protein_id": "ENSP00000623259.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 258,
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"cds_end": null,
"cds_length": 777,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953200.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000288878",
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"hgvs_c": "n.224+7660A>G",
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"transcript": "ENST00000785672.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000785672.1"
}
],
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"dbsnp": "rs781703999",
"frequency_reference_population": 0.000024166324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000259973,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40877145528793335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.9693,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.404,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003098.3",
"gene_symbol": "SNTA1",
"hgnc_id": 11167,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000785672.1",
"gene_symbol": "ENSG00000288878",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224+7660A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,Long QT syndrome 12,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "not provided|Long QT syndrome 12|Long QT syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}