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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: 1-67240217-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67240217&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 67240217,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000347310.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "NM_144701.3",
"protein_id": "NP_653302.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 629,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": "ENST00000347310.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "ENST00000347310.10",
"protein_id": "ENSP00000321345.5",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 629,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": "NM_144701.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"transcript": "ENST00000425614.3",
"protein_id": "ENSP00000387640.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 374,
"cds_start": 319,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*545G>A",
"hgvs_p": null,
"transcript": "ENST00000637002.1",
"protein_id": "ENSP00000490340.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*545G>A",
"hgvs_p": null,
"transcript": "ENST00000637002.1",
"protein_id": "ENSP00000490340.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.191-15620G>A",
"hgvs_p": null,
"transcript": "ENST00000473881.2",
"protein_id": "ENSP00000486667.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile",
"transcript": "ENST00000697164.1",
"protein_id": "ENSP00000513153.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 599,
"cds_start": 994,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "ENST00000697165.1",
"protein_id": "ENSP00000513154.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 528,
"cds_start": 781,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "ENST00000697163.1",
"protein_id": "ENSP00000513152.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 414,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile",
"transcript": "ENST00000697230.1",
"protein_id": "ENSP00000513197.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 384,
"cds_start": 994,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_011540790.4",
"protein_id": "XP_011539092.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 629,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_011540791.4",
"protein_id": "XP_011539093.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 629,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_047447227.1",
"protein_id": "XP_047303183.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 428,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*588G>A",
"hgvs_p": null,
"transcript": "ENST00000697148.1",
"protein_id": "ENSP00000513137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*398G>A",
"hgvs_p": null,
"transcript": "ENST00000697149.1",
"protein_id": "ENSP00000513138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.1084G>A",
"hgvs_p": null,
"transcript": "ENST00000697156.1",
"protein_id": "ENSP00000513145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*281G>A",
"hgvs_p": null,
"transcript": "ENST00000697157.1",
"protein_id": "ENSP00000513146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*75G>A",
"hgvs_p": null,
"transcript": "ENST00000697158.1",
"protein_id": "ENSP00000513147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*201G>A",
"hgvs_p": null,
"transcript": "ENST00000697159.1",
"protein_id": "ENSP00000513148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*95G>A",
"hgvs_p": null,
"transcript": "ENST00000697161.1",
"protein_id": "ENSP00000513150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*437G>A",
"hgvs_p": null,
"transcript": "ENST00000697162.1",
"protein_id": "ENSP00000513151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*308G>A",
"hgvs_p": null,
"transcript": "ENST00000697223.1",
"protein_id": "ENSP00000513190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"hgvs_c": "n.*111G>A",
"hgvs_p": null,
"transcript": "ENST00000697225.1",
"protein_id": "ENSP00000513192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"transcript": "ENST00000697224.1",
"protein_id": "ENSP00000513191.1",
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"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "IL23R",
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"hgvs_c": "n.*162+3415G>A",
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"transcript": "ENST00000697226.1",
"protein_id": "ENSP00000513193.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "IL23R",
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"hgvs_c": "n.*309-15620G>A",
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"transcript": "ENST00000697229.1",
"protein_id": "ENSP00000513196.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "IL23R",
"gene_hgnc_id": 19100,
"dbsnp": "rs41313262",
"frequency_reference_population": 0.012412977,
"hom_count_reference_population": 171,
"allele_count_reference_population": 20016,
"gnomad_exomes_af": 0.0126631,
"gnomad_genomes_af": 0.0100131,
"gnomad_exomes_ac": 18492,
"gnomad_genomes_ac": 1524,
"gnomad_exomes_homalt": 157,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003046095371246338,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.808,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000347310.10",
"gene_symbol": "IL23R",
"hgnc_id": 19100,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}