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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: 19-43552259-AC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43552259&ref=AC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "XRCC1",
"hgnc_id": 12828,
"hgvs_c": "c.839_840delGTinsCG",
"hgvs_p": "p.Arg280Pro",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006297.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": 633,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1902,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006297.3",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.839_840delGTinsCG",
"hgvs_p": "p.Arg280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262887.10",
"protein_coding": true,
"protein_id": "NP_006288.2",
"strand": false,
"transcript": "NM_006297.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1902,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262887.10",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.839_840delGTinsCG",
"hgvs_p": "p.Arg280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006297.3",
"protein_coding": true,
"protein_id": "ENSP00000262887.5",
"strand": false,
"transcript": "ENST00000262887.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 900,
"cds_end": null,
"cds_length": 1914,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953258.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.833_834delGTinsCG",
"hgvs_p": "p.Arg278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623317.1",
"strand": false,
"transcript": "ENST00000953258.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1899,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865401.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.836_837delGTinsCG",
"hgvs_p": "p.Arg279Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535460.1",
"strand": false,
"transcript": "ENST00000865401.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1899,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865404.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.839_840delGTinsCG",
"hgvs_p": "p.Arg280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535463.1",
"strand": false,
"transcript": "ENST00000865404.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1896,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865400.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.833_834delGTinsCG",
"hgvs_p": "p.Arg278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535459.1",
"strand": false,
"transcript": "ENST00000865400.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1896,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865405.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.833_834delGTinsCG",
"hgvs_p": "p.Arg278Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535464.1",
"strand": false,
"transcript": "ENST00000865405.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 631,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1896,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953254.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.836_837delGTinsCG",
"hgvs_p": "p.Arg279Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623313.1",
"strand": false,
"transcript": "ENST00000953254.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1893,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865403.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.830_831delGTinsCG",
"hgvs_p": "p.Arg277Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535462.1",
"strand": false,
"transcript": "ENST00000865403.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1893,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953256.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.839_840delGTinsCG",
"hgvs_p": "p.Arg280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623315.1",
"strand": false,
"transcript": "ENST00000953256.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 623,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1872,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934412.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.839_840delGTinsCG",
"hgvs_p": "p.Arg280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604471.1",
"strand": false,
"transcript": "ENST00000934412.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1809,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543982.5",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.746_747delGTinsCG",
"hgvs_p": "p.Arg249Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443671.1",
"strand": false,
"transcript": "ENST00000543982.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1806,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934413.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.743_744delGTinsCG",
"hgvs_p": "p.Arg248Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604472.1",
"strand": false,
"transcript": "ENST00000934413.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1788,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865402.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.725_726delGTinsCG",
"hgvs_p": "p.Arg242Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535461.1",
"strand": false,
"transcript": "ENST00000865402.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 798,
"cds_end": null,
"cds_length": 1785,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953257.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.722_723delGTinsCG",
"hgvs_p": "p.Arg241Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623316.1",
"strand": false,
"transcript": "ENST00000953257.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1743,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865399.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.680_681delGTinsCG",
"hgvs_p": "p.Arg227Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535458.1",
"strand": false,
"transcript": "ENST00000865399.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1680,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953255.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.617_618delGTinsCG",
"hgvs_p": "p.Arg206Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623314.1",
"strand": false,
"transcript": "ENST00000953255.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": 898,
"cds_end": null,
"cds_length": 876,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000598165.5",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "c.860_861delGTinsCG",
"hgvs_p": "p.Arg287Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470045.1",
"strand": false,
"transcript": "ENST00000598165.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000595789.5",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "n.960_961delGTinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000595789.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000597811.5",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "n.448_449delGTinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000470391.1",
"strand": false,
"transcript": "ENST00000597811.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000598422.1",
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"hgvs_c": "n.519_520delGTinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
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