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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: 20-33408521-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33408521&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33408521,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003098.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Gly502Arg",
"transcript": "NM_003098.3",
"protein_id": "NP_003089.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"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": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Gly502Arg",
"transcript": "ENST00000217381.3",
"protein_id": "ENSP00000217381.2",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Gly543Arg",
"transcript": "ENST00000953204.1",
"protein_id": "ENSP00000623263.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 546,
"cds_start": 1627,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Arg",
"transcript": "ENST00000953205.1",
"protein_id": "ENSP00000623264.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1573,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Gly512Arg",
"transcript": "ENST00000953203.1",
"protein_id": "ENSP00000623262.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 515,
"cds_start": 1534,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Gly509Arg",
"transcript": "ENST00000880503.1",
"protein_id": "ENSP00000550562.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 512,
"cds_start": 1525,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Gly508Arg",
"transcript": "ENST00000953201.1",
"protein_id": "ENSP00000623260.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 511,
"cds_start": 1522,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Gly507Arg",
"transcript": "ENST00000953206.1",
"protein_id": "ENSP00000623265.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 510,
"cds_start": 1519,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Gly506Arg",
"transcript": "ENST00000953198.1",
"protein_id": "ENSP00000623257.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 509,
"cds_start": 1516,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "NM_001424413.1",
"protein_id": "NP_001411342.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 504,
"cds_start": 1501,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Gly501Arg",
"transcript": "ENST00000880497.1",
"protein_id": "ENSP00000550556.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 504,
"cds_start": 1501,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1483G>A",
"hgvs_p": "p.Gly495Arg",
"transcript": "ENST00000880499.1",
"protein_id": "ENSP00000550558.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 498,
"cds_start": 1483,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Gly486Arg",
"transcript": "ENST00000880502.1",
"protein_id": "ENSP00000550561.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 489,
"cds_start": 1456,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Gly473Arg",
"transcript": "ENST00000880500.1",
"protein_id": "ENSP00000550559.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 476,
"cds_start": 1417,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Gly472Arg",
"transcript": "ENST00000953199.1",
"protein_id": "ENSP00000623258.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 475,
"cds_start": 1414,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Gly469Arg",
"transcript": "ENST00000953202.1",
"protein_id": "ENSP00000623261.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 472,
"cds_start": 1405,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Gly467Arg",
"transcript": "ENST00000880498.1",
"protein_id": "ENSP00000550557.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 470,
"cds_start": 1399,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Arg",
"transcript": "ENST00000953197.1",
"protein_id": "ENSP00000623256.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 469,
"cds_start": 1396,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Arg",
"transcript": "ENST00000953207.1",
"protein_id": "ENSP00000623266.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 469,
"cds_start": 1396,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Gly440Arg",
"transcript": "ENST00000880501.1",
"protein_id": "ENSP00000550560.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 443,
"cds_start": 1318,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Gly255Arg",
"transcript": "ENST00000953200.1",
"protein_id": "ENSP00000623259.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 258,
"cds_start": 763,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953200.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Gly473Arg",
"transcript": "XM_047440392.1",
"protein_id": "XP_047296348.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 476,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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},
{
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{
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],
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"gene_symbol": "ENSG00000288878",
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"biotype": "pseudogene",
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{
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],
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"gene_symbol": "LOC124904889",
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"biotype": "pseudogene",
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],
"gene_symbol": "SNTA1",
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"dbsnp": "rs768377696",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
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"gnomad_genomes_af": 0.0000131446,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.831311821937561,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.684,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9804,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.82,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003098.3",
"gene_symbol": "SNTA1",
"hgnc_id": 11167,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Gly502Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000785672.1",
"gene_symbol": "ENSG00000288878",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.43-1532C>T",
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},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007067567.1",
"gene_symbol": "LOC124904889",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.95-1532C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Long QT syndrome,Long QT syndrome 12",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Long QT syndrome 12|Long QT syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}