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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: 8-78686566-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=78686566&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 78686566,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016010.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys",
"transcript": "NM_016010.3",
"protein_id": "NP_057094.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 325,
"cds_start": 310,
"cds_end": null,
"cds_length": 978,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": "ENST00000263849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys",
"transcript": "ENST00000263849.9",
"protein_id": "ENSP00000263849.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 325,
"cds_start": 310,
"cds_end": null,
"cds_length": 978,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": "NM_016010.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys",
"transcript": "NM_001362969.2",
"protein_id": "NP_001349898.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 310,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys",
"transcript": "ENST00000519307.2",
"protein_id": "ENSP00000427797.2",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 310,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys",
"transcript": "ENST00000705982.1",
"protein_id": "ENSP00000516192.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 282,
"cds_start": 310,
"cds_end": null,
"cds_length": 849,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys",
"transcript": "XM_011517539.4",
"protein_id": "XP_011515841.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 248,
"cds_start": 310,
"cds_end": null,
"cds_length": 747,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "n.320G>T",
"hgvs_p": null,
"transcript": "ENST00000521176.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "n.310G>T",
"hgvs_p": null,
"transcript": "ENST00000705981.1",
"protein_id": "ENSP00000516191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"hgvs_c": "n.370G>T",
"hgvs_p": null,
"transcript": "NR_156423.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IL7",
"gene_hgnc_id": 6023,
"hgvs_c": "n.215-619C>A",
"hgvs_p": null,
"transcript": "ENST00000523959.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IL7",
"gene_hgnc_id": 6023,
"hgvs_c": "c.415-10462C>A",
"hgvs_p": null,
"transcript": "XM_011517523.4",
"protein_id": "XP_011515825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZC2HC1A",
"gene_hgnc_id": 24277,
"dbsnp": "rs1433232139",
"frequency_reference_population": 0.0000014494035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000014494,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7833137512207031,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9294,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.356,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016010.3",
"gene_symbol": "ZC2HC1A",
"hgnc_id": 24277,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Gly104Cys"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000523959.5",
"gene_symbol": "IL7",
"hgnc_id": 6023,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.215-619C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}