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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: 19-52353727-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52353727&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52353727,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000403906.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "NM_001161425.2",
"protein_id": "NP_001154897.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": "ENST00000403906.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000403906.8",
"protein_id": "ENSP00000383922.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": "NM_001161425.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000321287.12",
"protein_id": "ENSP00000324441.8",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000601151.5",
"protein_id": "ENSP00000471021.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 419,
"cds_start": 109,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000613461.3",
"protein_id": "ENSP00000477617.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 419,
"cds_start": 109,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "NM_001161426.2",
"protein_id": "NP_001154898.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "NM_173530.3",
"protein_id": "NP_775801.2",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000327920.12",
"protein_id": "ENSP00000327597.7",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000616431.2",
"protein_id": "ENSP00000485001.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "NM_001161427.2",
"protein_id": "NP_001154899.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 419,
"cds_start": 109,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "ENST00000593698.5",
"protein_id": "ENSP00000469935.1",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 84,
"cds_start": 109,
"cds_end": null,
"cds_length": 255,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "XM_047438284.1",
"protein_id": "XP_047294240.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "XM_047438285.1",
"protein_id": "XP_047294241.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "XM_047438286.1",
"protein_id": "XP_047294242.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln",
"transcript": "XM_047438287.1",
"protein_id": "XP_047294243.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 109,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF610",
"gene_hgnc_id": 26687,
"dbsnp": "rs762010183",
"frequency_reference_population": 6.8411714e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84117e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6828058958053589,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.5909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.748,
"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": "ENST00000403906.8",
"gene_symbol": "ZNF610",
"hgnc_id": 26687,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.109G>C",
"hgvs_p": "p.Glu37Gln"
}
],
"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
}