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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: 19-44327836-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44327836&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44327836,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000354340.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2321A>T",
"hgvs_p": "p.Glu774Val",
"transcript": "NM_013380.4",
"protein_id": "NP_037512.3",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 907,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": "ENST00000354340.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2321A>T",
"hgvs_p": "p.Glu774Val",
"transcript": "ENST00000354340.9",
"protein_id": "ENSP00000346305.3",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 907,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": "NM_013380.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2339A>T",
"hgvs_p": "p.Glu780Val",
"transcript": "ENST00000337401.8",
"protein_id": "ENSP00000337081.3",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 913,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2390A>T",
"hgvs_p": "p.Glu797Val",
"transcript": "NM_001348281.2",
"protein_id": "NP_001335210.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 930,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2339A>T",
"hgvs_p": "p.Glu780Val",
"transcript": "NM_001083335.2",
"protein_id": "NP_001076804.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 913,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2321A>T",
"hgvs_p": "p.Glu774Val",
"transcript": "NM_001348282.2",
"protein_id": "NP_001335211.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 907,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2321A>T",
"hgvs_p": "p.Glu774Val",
"transcript": "NM_001348283.1",
"protein_id": "NP_001335212.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 907,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2138A>T",
"hgvs_p": "p.Glu713Val",
"transcript": "NM_001348284.2",
"protein_id": "NP_001335213.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 846,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"hgvs_c": "c.2138A>T",
"hgvs_p": "p.Glu713Val",
"transcript": "NM_001348285.2",
"protein_id": "NP_001335214.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 846,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF112",
"gene_hgnc_id": 12892,
"dbsnp": "rs2609881",
"frequency_reference_population": 0.000004104433,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410443,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11635664105415344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.2899,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.755,
"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": "ENST00000354340.9",
"gene_symbol": "ZNF112",
"hgnc_id": 12892,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2321A>T",
"hgvs_p": "p.Glu774Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}