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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: 20-33410215-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33410215&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33410215,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003098.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "NM_003098.3",
"protein_id": "NP_003089.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 505,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "ENST00000217381.3",
"protein_id": "ENSP00000217381.2",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 505,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1280C>T",
"hgvs_p": "p.Pro427Leu",
"transcript": "ENST00000953204.1",
"protein_id": "ENSP00000623263.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 546,
"cds_start": 1280,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Pro409Leu",
"transcript": "ENST00000953205.1",
"protein_id": "ENSP00000623264.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 528,
"cds_start": 1226,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1187C>T",
"hgvs_p": "p.Pro396Leu",
"transcript": "ENST00000953203.1",
"protein_id": "ENSP00000623262.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 515,
"cds_start": 1187,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Pro393Leu",
"transcript": "ENST00000880503.1",
"protein_id": "ENSP00000550562.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 512,
"cds_start": 1178,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Pro393Leu",
"transcript": "ENST00000953201.1",
"protein_id": "ENSP00000623260.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 511,
"cds_start": 1178,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "ENST00000953206.1",
"protein_id": "ENSP00000623265.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 510,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "ENST00000953198.1",
"protein_id": "ENSP00000623257.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 509,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "NM_001424413.1",
"protein_id": "NP_001411342.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 504,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "ENST00000880497.1",
"protein_id": "ENSP00000550556.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 504,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "ENST00000880499.1",
"protein_id": "ENSP00000550558.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 498,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "NM_001424414.1",
"protein_id": "NP_001411343.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 496,
"cds_start": 1157,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Pro370Leu",
"transcript": "ENST00000880502.1",
"protein_id": "ENSP00000550561.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 489,
"cds_start": 1109,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000880498.1",
"protein_id": "ENSP00000550557.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 470,
"cds_start": 1052,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000953197.1",
"protein_id": "ENSP00000623256.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 469,
"cds_start": 1052,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Pro350Leu",
"transcript": "ENST00000953207.1",
"protein_id": "ENSP00000623266.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 469,
"cds_start": 1049,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.971C>T",
"hgvs_p": "p.Pro324Leu",
"transcript": "ENST00000880501.1",
"protein_id": "ENSP00000550560.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 443,
"cds_start": 971,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu",
"transcript": "XM_011529008.2",
"protein_id": "XP_011527310.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 495,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529008.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "XM_024451971.2",
"protein_id": "XP_024307739.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 396,
"cds_start": 830,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Thr342Thr",
"transcript": "ENST00000953202.1",
"protein_id": "ENSP00000623261.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 472,
"cds_start": 1026,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SNTA1",
"gene_hgnc_id": 11167,
"hgvs_c": "c.1151-1327C>T",
"hgvs_p": null,
"transcript": "ENST00000880500.1",
"protein_id": "ENSP00000550559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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"protein_coding": true,
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],
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"exon_count": 7,
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"transcript": "XM_047440392.1",
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"biotype": "protein_coding",
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"gene_symbol": "ENSG00000288878",
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"biotype": "pseudogene",
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{
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"biotype": "pseudogene",
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],
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"gnomad_genomes_ac": 28,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2502487897872925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.271,
"revel_prediction": "Benign",
"alphamissense_score": 0.1426,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.242,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003098.3",
"gene_symbol": "SNTA1",
"hgnc_id": 11167,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Pro386Leu"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000785672.1",
"gene_symbol": "ENSG00000288878",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.205G>A",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XR_007067567.1",
"gene_symbol": "LOC124904889",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.257G>A",
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}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "not provided|Long QT syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}