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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67240217&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 67240217,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000347310.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"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>T",
"hgvs_p": "p.Val362Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val362Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val107Phe",
"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>T",
"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>T",
"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>T",
"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": "F",
"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>T",
"hgvs_p": "p.Val332Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val261Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val362Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val332Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val362Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val362Phe",
"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": "F",
"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>T",
"hgvs_p": "p.Val362Phe",
"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>T",
"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>T",
"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>T",
"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>T",
"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>T",
"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>T",
"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>T",
"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>T",
"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>T",
"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>T",
"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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],
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}