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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: 19-43544180-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43544180&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43544180,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006297.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1676G>T",
"hgvs_p": "p.Arg559Leu",
"transcript": "NM_006297.3",
"protein_id": "NP_006288.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 633,
"cds_start": 1676,
"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": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1676G>T",
"hgvs_p": "p.Arg559Leu",
"transcript": "ENST00000262887.10",
"protein_id": "ENSP00000262887.5",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 633,
"cds_start": 1676,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1688G>T",
"hgvs_p": "p.Arg563Leu",
"transcript": "ENST00000953258.1",
"protein_id": "ENSP00000623317.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 637,
"cds_start": 1688,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1673G>T",
"hgvs_p": "p.Arg558Leu",
"transcript": "ENST00000865401.1",
"protein_id": "ENSP00000535460.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 632,
"cds_start": 1673,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1673G>T",
"hgvs_p": "p.Arg558Leu",
"transcript": "ENST00000865404.1",
"protein_id": "ENSP00000535463.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 632,
"cds_start": 1673,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1670G>T",
"hgvs_p": "p.Arg557Leu",
"transcript": "ENST00000865400.1",
"protein_id": "ENSP00000535459.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 631,
"cds_start": 1670,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1670G>T",
"hgvs_p": "p.Arg557Leu",
"transcript": "ENST00000865405.1",
"protein_id": "ENSP00000535464.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 631,
"cds_start": 1670,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1670G>T",
"hgvs_p": "p.Arg557Leu",
"transcript": "ENST00000953254.1",
"protein_id": "ENSP00000623313.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 631,
"cds_start": 1670,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1667G>T",
"hgvs_p": "p.Arg556Leu",
"transcript": "ENST00000865403.1",
"protein_id": "ENSP00000535462.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 630,
"cds_start": 1667,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1667G>T",
"hgvs_p": "p.Arg556Leu",
"transcript": "ENST00000953256.1",
"protein_id": "ENSP00000623315.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 630,
"cds_start": 1667,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1646G>T",
"hgvs_p": "p.Arg549Leu",
"transcript": "ENST00000934412.1",
"protein_id": "ENSP00000604471.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 623,
"cds_start": 1646,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1583G>T",
"hgvs_p": "p.Arg528Leu",
"transcript": "ENST00000543982.5",
"protein_id": "ENSP00000443671.1",
"transcript_support_level": 2,
"aa_start": 528,
"aa_end": null,
"aa_length": 602,
"cds_start": 1583,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1580G>T",
"hgvs_p": "p.Arg527Leu",
"transcript": "ENST00000934413.1",
"protein_id": "ENSP00000604472.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 601,
"cds_start": 1580,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1562G>T",
"hgvs_p": "p.Arg521Leu",
"transcript": "ENST00000865402.1",
"protein_id": "ENSP00000535461.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 595,
"cds_start": 1562,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1559G>T",
"hgvs_p": "p.Arg520Leu",
"transcript": "ENST00000953257.1",
"protein_id": "ENSP00000623316.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 594,
"cds_start": 1559,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1517G>T",
"hgvs_p": "p.Arg506Leu",
"transcript": "ENST00000865399.1",
"protein_id": "ENSP00000535458.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 580,
"cds_start": 1517,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC1",
"gene_hgnc_id": 12828,
"hgvs_c": "c.1454G>T",
"hgvs_p": "p.Arg485Leu",
"transcript": "ENST00000953255.1",
"protein_id": "ENSP00000623314.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 559,
"cds_start": 1454,
"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": "rs2307167",
"frequency_reference_population": 0.000006575054,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657505,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5650847554206848,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.618,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3374,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.109,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006297.3",
"gene_symbol": "XRCC1",
"hgnc_id": 12828,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1676G>T",
"hgvs_p": "p.Arg559Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}