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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: 20-33408526-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33408526&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33408526,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003098.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "NM_003098.3",
"protein_id": "NP_003089.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 505,
"cds_start": 1499,
"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": "R",
"aa_alt": "H",
"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.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "ENST00000217381.3",
"protein_id": "ENSP00000217381.2",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 505,
"cds_start": 1499,
"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": "R",
"aa_alt": "H",
"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.1622G>A",
"hgvs_p": "p.Arg541His",
"transcript": "ENST00000953204.1",
"protein_id": "ENSP00000623263.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 546,
"cds_start": 1622,
"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": "R",
"aa_alt": "H",
"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.1568G>A",
"hgvs_p": "p.Arg523His",
"transcript": "ENST00000953205.1",
"protein_id": "ENSP00000623264.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 528,
"cds_start": 1568,
"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": "R",
"aa_alt": "H",
"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.1529G>A",
"hgvs_p": "p.Arg510His",
"transcript": "ENST00000953203.1",
"protein_id": "ENSP00000623262.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 515,
"cds_start": 1529,
"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": "R",
"aa_alt": "H",
"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.1520G>A",
"hgvs_p": "p.Arg507His",
"transcript": "ENST00000880503.1",
"protein_id": "ENSP00000550562.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 512,
"cds_start": 1520,
"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": "R",
"aa_alt": "H",
"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.1517G>A",
"hgvs_p": "p.Arg506His",
"transcript": "ENST00000953201.1",
"protein_id": "ENSP00000623260.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 511,
"cds_start": 1517,
"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": "R",
"aa_alt": "H",
"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.1514G>A",
"hgvs_p": "p.Arg505His",
"transcript": "ENST00000953206.1",
"protein_id": "ENSP00000623265.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 510,
"cds_start": 1514,
"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": "R",
"aa_alt": "H",
"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.1511G>A",
"hgvs_p": "p.Arg504His",
"transcript": "ENST00000953198.1",
"protein_id": "ENSP00000623257.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 509,
"cds_start": 1511,
"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": "R",
"aa_alt": "H",
"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.1496G>A",
"hgvs_p": "p.Arg499His",
"transcript": "NM_001424413.1",
"protein_id": "NP_001411342.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 504,
"cds_start": 1496,
"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": "R",
"aa_alt": "H",
"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.1496G>A",
"hgvs_p": "p.Arg499His",
"transcript": "ENST00000880497.1",
"protein_id": "ENSP00000550556.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 504,
"cds_start": 1496,
"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": "R",
"aa_alt": "H",
"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.1478G>A",
"hgvs_p": "p.Arg493His",
"transcript": "ENST00000880499.1",
"protein_id": "ENSP00000550558.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 498,
"cds_start": 1478,
"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": "R",
"aa_alt": "H",
"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.1451G>A",
"hgvs_p": "p.Arg484His",
"transcript": "ENST00000880502.1",
"protein_id": "ENSP00000550561.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 489,
"cds_start": 1451,
"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": "R",
"aa_alt": "H",
"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.1412G>A",
"hgvs_p": "p.Arg471His",
"transcript": "ENST00000880500.1",
"protein_id": "ENSP00000550559.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 476,
"cds_start": 1412,
"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": "R",
"aa_alt": "H",
"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.1409G>A",
"hgvs_p": "p.Arg470His",
"transcript": "ENST00000953199.1",
"protein_id": "ENSP00000623258.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 475,
"cds_start": 1409,
"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": "R",
"aa_alt": "H",
"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.1400G>A",
"hgvs_p": "p.Arg467His",
"transcript": "ENST00000953202.1",
"protein_id": "ENSP00000623261.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 472,
"cds_start": 1400,
"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": "R",
"aa_alt": "H",
"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.1394G>A",
"hgvs_p": "p.Arg465His",
"transcript": "ENST00000880498.1",
"protein_id": "ENSP00000550557.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 470,
"cds_start": 1394,
"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": "R",
"aa_alt": "H",
"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.1391G>A",
"hgvs_p": "p.Arg464His",
"transcript": "ENST00000953197.1",
"protein_id": "ENSP00000623256.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 469,
"cds_start": 1391,
"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": "R",
"aa_alt": "H",
"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.1391G>A",
"hgvs_p": "p.Arg464His",
"transcript": "ENST00000953207.1",
"protein_id": "ENSP00000623266.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 469,
"cds_start": 1391,
"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": "R",
"aa_alt": "H",
"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.1313G>A",
"hgvs_p": "p.Arg438His",
"transcript": "ENST00000880501.1",
"protein_id": "ENSP00000550560.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 443,
"cds_start": 1313,
"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": "R",
"aa_alt": "H",
"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.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "ENST00000953200.1",
"protein_id": "ENSP00000623259.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 258,
"cds_start": 758,
"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": "R",
"aa_alt": "H",
"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.1412G>A",
"hgvs_p": "p.Arg471His",
"transcript": "XM_047440392.1",
"protein_id": "XP_047296348.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 476,
"cds_start": 1412,
"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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],
"gene_symbol": "SNTA1",
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"dbsnp": "rs761509610",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000262681,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7168958187103271,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.775,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5647,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.904,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003098.3",
"gene_symbol": "SNTA1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000785672.1",
"gene_symbol": "ENSG00000288878",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.43-1527C>T",
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},
{
"score": 0,
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"pathogenic_score": 0,
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"verdict": "Uncertain_significance",
"transcript": "XR_007067567.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.95-1527C>T",
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}
],
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}