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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: 9-112262510-TA-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112262510&ref=TA&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PTBP3",
"hgnc_id": 10253,
"hgvs_c": "c.542_543delTAinsCT",
"hgvs_p": "p.Leu181Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001244898.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7192,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001163788.4",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374257.6",
"protein_coding": true,
"protein_id": "NP_001157260.1",
"strand": false,
"transcript": "NM_001163788.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7192,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374257.6",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001163788.4",
"protein_coding": true,
"protein_id": "ENSP00000363375.1",
"strand": false,
"transcript": "ENST00000374257.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 558,
"aa_ref": "L",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7996,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1677,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244898.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.542_543delTAinsCT",
"hgvs_p": "p.Leu181Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231827.1",
"strand": false,
"transcript": "NM_001244898.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 558,
"aa_ref": "L",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1677,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000210227.5",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.542_543delTAinsCT",
"hgvs_p": "p.Leu181Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000210227.5",
"strand": false,
"transcript": "ENST00000210227.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 555,
"aa_ref": "L",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7991,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1668,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001163790.2",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.533_534delTAinsCT",
"hgvs_p": "p.Leu178Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157262.1",
"strand": false,
"transcript": "NM_001163790.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 555,
"aa_ref": "L",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7041,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1668,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450374.2",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.533_534delTAinsCT",
"hgvs_p": "p.Leu178Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388024.2",
"strand": false,
"transcript": "ENST00000450374.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 555,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7169,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1668,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932749.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602808.1",
"strand": false,
"transcript": "ENST00000932749.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 552,
"aa_ref": "L",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7937,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1659,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005156.7",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.524_525delTAinsCT",
"hgvs_p": "p.Leu175Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005147.3",
"strand": false,
"transcript": "NM_005156.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 552,
"aa_ref": "L",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7943,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1659,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374255.7",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.524_525delTAinsCT",
"hgvs_p": "p.Leu175Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363373.2",
"strand": false,
"transcript": "ENST00000374255.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 552,
"aa_ref": "L",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1659,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874009.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.431_432delTAinsCT",
"hgvs_p": "p.Leu144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544068.1",
"strand": false,
"transcript": "ENST00000874009.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 547,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1644,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244897.2",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001231826.1",
"strand": false,
"transcript": "NM_001244897.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000850868.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520953.1",
"strand": false,
"transcript": "ENST00000850868.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7080,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874008.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544067.1",
"strand": false,
"transcript": "ENST00000874008.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7118,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932753.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602812.1",
"strand": false,
"transcript": "ENST00000932753.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7742,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932756.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602815.1",
"strand": false,
"transcript": "ENST00000932756.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4615,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1575,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968728.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.440_441delTAinsCT",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638787.1",
"strand": false,
"transcript": "ENST00000968728.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7183,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1566,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375918.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.431_432delTAinsCT",
"hgvs_p": "p.Leu144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362847.1",
"strand": false,
"transcript": "NM_001375918.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7090,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1566,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000874007.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.431_432delTAinsCT",
"hgvs_p": "p.Leu144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544066.1",
"strand": false,
"transcript": "ENST00000874007.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7061,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1566,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932751.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.431_432delTAinsCT",
"hgvs_p": "p.Leu144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602810.1",
"strand": false,
"transcript": "ENST00000932751.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7016,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1566,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932752.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.431_432delTAinsCT",
"hgvs_p": "p.Leu144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602811.1",
"strand": false,
"transcript": "ENST00000932752.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1566,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932754.1",
"gene_hgnc_id": 10253,
"gene_symbol": "PTBP3",
"hgvs_c": "c.431_432delTAinsCT",
"hgvs_p": "p.Leu144Pro",
"intron_rank": null,
"intron_rank_end": null,
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