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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: 10-32912058-CAT-AAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32912058&ref=CAT&alt=AAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGB1",
"hgnc_id": 6153,
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_033668.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002211.4",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302278.8",
"protein_coding": true,
"protein_id": "NP_002202.2",
"strand": false,
"transcript": "NM_002211.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302278.8",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002211.4",
"protein_coding": true,
"protein_id": "ENSP00000303351.3",
"strand": false,
"transcript": "ENST00000302278.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 741,
"aa_ref": "M",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 2226,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000488427.2",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1363_1365delATGinsCTT",
"hgvs_p": "p.Met455Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417508.2",
"strand": false,
"transcript": "ENST00000488427.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 877,
"aa_ref": "M",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2634,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966597.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1771_1773delATGinsCTT",
"hgvs_p": "p.Met591Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636656.1",
"strand": false,
"transcript": "ENST00000966597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7110,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677310.2",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504508.1",
"strand": false,
"transcript": "ENST00000677310.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3780,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678766.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503538.1",
"strand": false,
"transcript": "ENST00000678766.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 819,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676659.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502979.1",
"strand": false,
"transcript": "ENST00000676659.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "M",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4021,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474568.6",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1558_1560delATGinsCTT",
"hgvs_p": "p.Met520Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420282.2",
"strand": false,
"transcript": "ENST00000474568.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "M",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677363.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1558_1560delATGinsCTT",
"hgvs_p": "p.Met520Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504791.1",
"strand": false,
"transcript": "ENST00000677363.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "M",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898627.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1567_1569delATGinsCTT",
"hgvs_p": "p.Met523Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568686.1",
"strand": false,
"transcript": "ENST00000898627.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 808,
"aa_ref": "M",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1564,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966589.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1564_1566delATGinsCTT",
"hgvs_p": "p.Met522Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636648.1",
"strand": false,
"transcript": "ENST00000966589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 805,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898622.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568681.1",
"strand": false,
"transcript": "ENST00000898622.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 801,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033668.2",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_391988.1",
"strand": false,
"transcript": "NM_033668.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 801,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423113.6",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388694.1",
"strand": false,
"transcript": "ENST00000423113.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 801,
"aa_ref": "M",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000488494.6",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1543_1545delATGinsCTT",
"hgvs_p": "p.Met515Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418725.2",
"strand": false,
"transcript": "ENST00000488494.6",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133376.3",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_596867.1",
"strand": false,
"transcript": "NM_133376.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396033.6",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379350.2",
"strand": false,
"transcript": "ENST00000396033.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417122.7",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404546.3",
"strand": false,
"transcript": "ENST00000417122.7",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437302.6",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398029.2",
"strand": false,
"transcript": "ENST00000437302.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677999.1",
"gene_hgnc_id": 6153,
"gene_symbol": "ITGB1",
"hgvs_c": "c.1534_1536delATGinsCTT",
"hgvs_p": "p.Met512Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503546.1",
"strand": false,
"transcript": "ENST00000677999.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "M",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 2397,
"cds_start": 1534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
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