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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: 19-21727904-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=21727904&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 21727904,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000358296.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.407delG",
"hgvs_p": "p.Gly136fs",
"transcript": "NM_173531.4",
"protein_id": "NP_775802.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 542,
"cds_start": 407,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": "ENST00000358296.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.407delG",
"hgvs_p": "p.Gly136fs",
"transcript": "ENST00000358296.11",
"protein_id": "ENSP00000351042.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 542,
"cds_start": 407,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": "NM_173531.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.215delG",
"hgvs_p": "p.Gly72fs",
"transcript": "ENST00000305570.10",
"protein_id": "ENSP00000445201.3",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 478,
"cds_start": 215,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.404delG",
"hgvs_p": "p.Gly135fs",
"transcript": "NM_001351669.2",
"protein_id": "NP_001338598.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 541,
"cds_start": 404,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.308delG",
"hgvs_p": "p.Gly103fs",
"transcript": "NM_001351670.2",
"protein_id": "NP_001338599.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 509,
"cds_start": 308,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.104delG",
"hgvs_p": "p.Gly35fs",
"transcript": "NM_001351671.2",
"protein_id": "NP_001338600.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 441,
"cds_start": 104,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.218delG",
"hgvs_p": "p.Gly73fs",
"transcript": "XM_047438363.1",
"protein_id": "XP_047294319.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 479,
"cds_start": 218,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.218delG",
"hgvs_p": "p.Gly73fs",
"transcript": "XM_047438364.1",
"protein_id": "XP_047294320.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 479,
"cds_start": 218,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.-239delG",
"hgvs_p": null,
"transcript": "NM_001351672.2",
"protein_id": "NP_001338601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"hgvs_c": "c.*26delG",
"hgvs_p": null,
"transcript": "ENST00000594401.1",
"protein_id": "ENSP00000471371.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF100",
"gene_hgnc_id": 12880,
"dbsnp": "rs193921016",
"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": 0.188,
"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": "ENST00000358296.11",
"gene_symbol": "ZNF100",
"hgnc_id": 12880,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.407delG",
"hgvs_p": "p.Gly136fs"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}