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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: 15-40729927-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40729927&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40729927,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000267868.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs",
"transcript": "NM_002875.5",
"protein_id": "NP_002866.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 339,
"cds_start": 855,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": "ENST00000267868.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs",
"transcript": "ENST00000267868.8",
"protein_id": "ENSP00000267868.3",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 339,
"cds_start": 855,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": "NM_002875.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs",
"transcript": "ENST00000532743.6",
"protein_id": "ENSP00000433924.2",
"transcript_support_level": 2,
"aa_start": 285,
"aa_end": null,
"aa_length": 339,
"cds_start": 855,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.564delA",
"hgvs_p": "p.Lys188fs",
"transcript": "ENST00000557850.5",
"protein_id": "ENSP00000454176.1",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 242,
"cds_start": 564,
"cds_end": null,
"cds_length": 729,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.774+299delA",
"hgvs_p": null,
"transcript": "ENST00000423169.6",
"protein_id": "ENSP00000406602.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.858delA",
"hgvs_p": "p.Lys286fs",
"transcript": "NM_001164269.2",
"protein_id": "NP_001157741.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 340,
"cds_start": 858,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.858delA",
"hgvs_p": "p.Lys286fs",
"transcript": "NM_133487.4",
"protein_id": "NP_597994.3",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 340,
"cds_start": 858,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.858delA",
"hgvs_p": "p.Lys286fs",
"transcript": "ENST00000382643.7",
"protein_id": "ENSP00000372088.3",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 340,
"cds_start": 858,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.858delA",
"hgvs_p": "p.Lys286fs",
"transcript": "ENST00000645673.2",
"protein_id": "ENSP00000493712.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 340,
"cds_start": 858,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.945delA",
"hgvs_p": "p.Lys315fs",
"transcript": "XM_011521857.3",
"protein_id": "XP_011520159.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 369,
"cds_start": 945,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs",
"transcript": "XM_011521858.3",
"protein_id": "XP_011520160.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 339,
"cds_start": 855,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs",
"transcript": "XM_011521859.3",
"protein_id": "XP_011520161.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 339,
"cds_start": 855,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs",
"transcript": "XM_011521860.3",
"protein_id": "XP_011520162.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 339,
"cds_start": 855,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.483delA",
"hgvs_p": "p.Lys161fs",
"transcript": "XM_047432925.1",
"protein_id": "XP_047288881.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 215,
"cds_start": 483,
"cds_end": null,
"cds_length": 648,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.*304delA",
"hgvs_p": null,
"transcript": "ENST00000525066.5",
"protein_id": "ENSP00000431864.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.*304delA",
"hgvs_p": null,
"transcript": "ENST00000525066.5",
"protein_id": "ENSP00000431864.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.774+299delA",
"hgvs_p": null,
"transcript": "NM_001164270.2",
"protein_id": "NP_001157742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": -4,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.864+299delA",
"hgvs_p": null,
"transcript": "XM_011521861.3",
"protein_id": "XP_011520163.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"dbsnp": "rs34091239",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.96,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000267868.8",
"gene_symbol": "RAD51",
"hgnc_id": 9817,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.855delA",
"hgvs_p": "p.Lys285fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}