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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: 19-43543398-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43543398&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43543398,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006297.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1896A>G",
"hgvs_p": "p.Gln632Gln",
"transcript": "NM_006297.3",
"protein_id": "NP_006288.2",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 633,
"cds_start": 1896,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262887.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006297.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1896A>G",
"hgvs_p": "p.Gln632Gln",
"transcript": "ENST00000262887.10",
"protein_id": "ENSP00000262887.5",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 633,
"cds_start": 1896,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006297.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262887.10"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1908A>G",
"hgvs_p": "p.Gln636Gln",
"transcript": "ENST00000953258.1",
"protein_id": "ENSP00000623317.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 637,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953258.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1893A>G",
"hgvs_p": "p.Gln631Gln",
"transcript": "ENST00000865401.1",
"protein_id": "ENSP00000535460.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 632,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865401.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1893A>G",
"hgvs_p": "p.Gln631Gln",
"transcript": "ENST00000865404.1",
"protein_id": "ENSP00000535463.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 632,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865404.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1890A>G",
"hgvs_p": "p.Gln630Gln",
"transcript": "ENST00000865400.1",
"protein_id": "ENSP00000535459.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 631,
"cds_start": 1890,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865400.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1890A>G",
"hgvs_p": "p.Gln630Gln",
"transcript": "ENST00000865405.1",
"protein_id": "ENSP00000535464.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 631,
"cds_start": 1890,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865405.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1890A>G",
"hgvs_p": "p.Gln630Gln",
"transcript": "ENST00000953254.1",
"protein_id": "ENSP00000623313.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 631,
"cds_start": 1890,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953254.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1887A>G",
"hgvs_p": "p.Gln629Gln",
"transcript": "ENST00000865403.1",
"protein_id": "ENSP00000535462.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 630,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865403.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1887A>G",
"hgvs_p": "p.Gln629Gln",
"transcript": "ENST00000953256.1",
"protein_id": "ENSP00000623315.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 630,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953256.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1866A>G",
"hgvs_p": "p.Gln622Gln",
"transcript": "ENST00000934412.1",
"protein_id": "ENSP00000604471.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 623,
"cds_start": 1866,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934412.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1803A>G",
"hgvs_p": "p.Gln601Gln",
"transcript": "ENST00000543982.5",
"protein_id": "ENSP00000443671.1",
"transcript_support_level": 2,
"aa_start": 601,
"aa_end": null,
"aa_length": 602,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543982.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1800A>G",
"hgvs_p": "p.Gln600Gln",
"transcript": "ENST00000934413.1",
"protein_id": "ENSP00000604472.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 601,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934413.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1782A>G",
"hgvs_p": "p.Gln594Gln",
"transcript": "ENST00000865402.1",
"protein_id": "ENSP00000535461.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 595,
"cds_start": 1782,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865402.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1779A>G",
"hgvs_p": "p.Gln593Gln",
"transcript": "ENST00000953257.1",
"protein_id": "ENSP00000623316.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 594,
"cds_start": 1779,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953257.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1737A>G",
"hgvs_p": "p.Gln579Gln",
"transcript": "ENST00000865399.1",
"protein_id": "ENSP00000535458.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 580,
"cds_start": 1737,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865399.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1674A>G",
"hgvs_p": "p.Gln558Gln",
"transcript": "ENST00000953255.1",
"protein_id": "ENSP00000623314.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 559,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953255.1"
}
],
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"dbsnp": "rs3547",
"frequency_reference_population": 0.5961213,
"hom_count_reference_population": 288195,
"allele_count_reference_population": 946426,
"gnomad_exomes_af": 0.593084,
"gnomad_genomes_af": 0.625475,
"gnomad_exomes_ac": 853299,
"gnomad_genomes_ac": 93127,
"gnomad_exomes_homalt": 258642,
"gnomad_genomes_homalt": 29553,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.339,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_006297.3",
"gene_symbol": "XRCC1",
"hgnc_id": 12828,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1896A>G",
"hgvs_p": "p.Gln632Gln"
}
],
"clinvar_disease": " autosomal recessive 26,Spinocerebellar ataxia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Spinocerebellar ataxia, autosomal recessive 26|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}