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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: 19-43545888-GC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43545888&ref=GC&alt=AG&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.1550_1551delGCinsCT",
"hgvs_p": "p.Gly517Ala",
"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": "AG",
"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": "A",
"aa_end": null,
"aa_length": 633,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1550,
"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.1550_1551delGCinsCT",
"hgvs_p": "p.Gly517Ala",
"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": "A",
"aa_end": null,
"aa_length": 633,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1550,
"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.1550_1551delGCinsCT",
"hgvs_p": "p.Gly517Ala",
"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": "A",
"aa_end": null,
"aa_length": 637,
"aa_ref": "G",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1562,
"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.1562_1563delGCinsCT",
"hgvs_p": "p.Gly521Ala",
"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": "A",
"aa_end": null,
"aa_length": 632,
"aa_ref": "G",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1547,
"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.1547_1548delGCinsCT",
"hgvs_p": "p.Gly516Ala",
"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": "A",
"aa_end": null,
"aa_length": 632,
"aa_ref": "G",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1547,
"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.1547_1548delGCinsCT",
"hgvs_p": "p.Gly516Ala",
"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": "A",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1544,
"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.1544_1545delGCinsCT",
"hgvs_p": "p.Gly515Ala",
"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": "A",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1544,
"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.1544_1545delGCinsCT",
"hgvs_p": "p.Gly515Ala",
"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": "A",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1544,
"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.1544_1545delGCinsCT",
"hgvs_p": "p.Gly515Ala",
"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": "A",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1541,
"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.1541_1542delGCinsCT",
"hgvs_p": "p.Gly514Ala",
"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": "A",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1541,
"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.1541_1542delGCinsCT",
"hgvs_p": "p.Gly514Ala",
"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": "A",
"aa_end": null,
"aa_length": 623,
"aa_ref": "G",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1520,
"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.1520_1521delGCinsCT",
"hgvs_p": "p.Gly507Ala",
"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": "A",
"aa_end": null,
"aa_length": 602,
"aa_ref": "G",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1457,
"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.1457_1458delGCinsCT",
"hgvs_p": "p.Gly486Ala",
"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": "A",
"aa_end": null,
"aa_length": 601,
"aa_ref": "G",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1454,
"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.1454_1455delGCinsCT",
"hgvs_p": "p.Gly485Ala",
"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": "A",
"aa_end": null,
"aa_length": 595,
"aa_ref": "G",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1436,
"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.1436_1437delGCinsCT",
"hgvs_p": "p.Gly479Ala",
"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": "A",
"aa_end": null,
"aa_length": 594,
"aa_ref": "G",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1433,
"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.1433_1434delGCinsCT",
"hgvs_p": "p.Gly478Ala",
"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": "A",
"aa_end": null,
"aa_length": 580,
"aa_ref": "G",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1391,
"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.1391_1392delGCinsCT",
"hgvs_p": "p.Gly464Ala",
"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": "A",
"aa_end": null,
"aa_length": 559,
"aa_ref": "G",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1328,
"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.1328_1329delGCinsCT",
"hgvs_p": "p.Gly443Ala",
"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
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12828,
"gene_symbol": "XRCC1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.397,
"pos": 43545888,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_006297.3"
}
]
}