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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: 19-57590352-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57590352&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57590352,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001010879.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Trp",
"transcript": "NM_001010879.4",
"protein_id": "NP_001010879.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 487,
"cds_start": 541,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000597850.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010879.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Trp",
"transcript": "ENST00000597850.2",
"protein_id": "ENSP00000472867.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 487,
"cds_start": 541,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010879.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597850.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "ENST00000599456.1",
"protein_id": "ENSP00000468937.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 432,
"cds_start": 376,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.*285C>T",
"hgvs_p": null,
"transcript": "ENST00000307468.4",
"protein_id": "ENSP00000303820.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 29,
"cds_start": null,
"cds_end": null,
"cds_length": 90,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307468.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Trp",
"transcript": "NM_001321145.2",
"protein_id": "NP_001308074.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 474,
"cds_start": 502,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321145.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Trp",
"transcript": "ENST00000536878.6",
"protein_id": "ENSP00000438487.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 474,
"cds_start": 502,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536878.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "NM_001321146.2",
"protein_id": "NP_001308075.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 432,
"cds_start": 376,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321146.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Trp",
"transcript": "NM_001321147.2",
"protein_id": "NP_001308076.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 384,
"cds_start": 232,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321147.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "XM_011526761.2",
"protein_id": "XP_011525063.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 473,
"cds_start": 499,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526761.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Trp",
"transcript": "XM_011526762.2",
"protein_id": "XP_011525064.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 468,
"cds_start": 484,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526762.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "XM_011526765.3",
"protein_id": "XP_011525067.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 451,
"cds_start": 433,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526765.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Trp",
"transcript": "XM_011526766.3",
"protein_id": "XP_011525068.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 432,
"cds_start": 376,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526766.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Trp",
"transcript": "XM_011526767.4",
"protein_id": "XP_011525069.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 384,
"cds_start": 232,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526767.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303240",
"gene_hgnc_id": null,
"hgvs_c": "n.148-2351G>A",
"hgvs_p": null,
"transcript": "ENST00000793143.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000793143.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.*154C>T",
"hgvs_p": null,
"transcript": "ENST00000600053.5",
"protein_id": "ENSP00000472088.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600053.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"hgvs_c": "c.*138C>T",
"hgvs_p": null,
"transcript": "ENST00000598689.1",
"protein_id": "ENSP00000469971.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598689.1"
}
],
"gene_symbol": "ZIK1",
"gene_hgnc_id": 33104,
"dbsnp": "rs753153477",
"frequency_reference_population": 0.000024782748,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000191534,
"gnomad_genomes_af": 0.0000788726,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11486491560935974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.118,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001010879.4",
"gene_symbol": "ZIK1",
"hgnc_id": 33104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181Trp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000793143.1",
"gene_symbol": "ENSG00000303240",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.148-2351G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}