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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: 17-11978042-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=11978042&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 11978042,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144680.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "NM_001303281.2",
"protein_id": "NP_001290210.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000580306.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303281.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "ENST00000580306.7",
"protein_id": "ENSP00000463471.1",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303281.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580306.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "ENST00000580613.5",
"protein_id": "ENSP00000462296.3",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580613.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "ENST00000454073.7",
"protein_id": "ENSP00000391376.3",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 548,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454073.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "NM_144680.4",
"protein_id": "NP_653281.2",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144680.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "ENST00000322748.7",
"protein_id": "ENSP00000315664.3",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322748.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "NM_001303282.2",
"protein_id": "NP_001290211.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 548,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303282.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "XM_011524002.4",
"protein_id": "XP_011522304.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524002.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "XM_024450909.2",
"protein_id": "XP_024306677.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450909.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "XM_024450911.2",
"protein_id": "XP_024306679.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450911.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr",
"transcript": "XM_047436647.1",
"protein_id": "XP_047292603.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436647.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "XM_017025010.3",
"protein_id": "XP_016880499.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 548,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025010.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "XM_017025011.3",
"protein_id": "XP_016880500.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 548,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025011.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "XM_047436648.1",
"protein_id": "XP_047292604.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 548,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436648.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "XM_047436649.1",
"protein_id": "XP_047292605.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 548,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436649.1"
},
{
"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": "ZNF18",
"gene_hgnc_id": 12969,
"hgvs_c": "c.*219G>A",
"hgvs_p": null,
"transcript": "ENST00000577671.5",
"protein_id": "ENSP00000462383.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577671.5"
}
],
"gene_symbol": "ZNF18",
"gene_hgnc_id": 12969,
"dbsnp": "rs761826934",
"frequency_reference_population": 0.0000068206227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684666,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9453703165054321,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.791,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.157,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_144680.4",
"gene_symbol": "ZNF18",
"hgnc_id": 12969,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Cys522Tyr"
}
],
"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
}