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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: 7-139047751-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139047751&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 139047751,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000242351.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2552C>T",
"hgvs_p": "p.Thr851Ile",
"transcript": "NM_020119.4",
"protein_id": "NP_064504.2",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 902,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000242351.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2552C>T",
"hgvs_p": "p.Thr851Ile",
"transcript": "ENST00000242351.10",
"protein_id": "ENSP00000242351.5",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 902,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_020119.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2918C>T",
"hgvs_p": "p.Thr973Ile",
"transcript": "NM_001363491.2",
"protein_id": "NP_001350420.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 7543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2918C>T",
"hgvs_p": "p.Thr973Ile",
"transcript": "ENST00000464606.5",
"protein_id": "ENSP00000418385.1",
"transcript_support_level": 5,
"aa_start": 973,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2117C>T",
"hgvs_p": "p.Thr706Ile",
"transcript": "ENST00000680309.1",
"protein_id": "ENSP00000505045.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 757,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"dbsnp": "rs3735007",
"frequency_reference_population": 0.5090075,
"hom_count_reference_population": 212893,
"allele_count_reference_population": 821021,
"gnomad_exomes_af": 0.504587,
"gnomad_genomes_af": 0.551489,
"gnomad_exomes_ac": 737188,
"gnomad_genomes_ac": 83833,
"gnomad_exomes_homalt": 188980,
"gnomad_genomes_homalt": 23913,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000026139737201447133,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.1266,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.535,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000242351.10",
"gene_symbol": "ZC3HAV1",
"hgnc_id": 23721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2552C>T",
"hgvs_p": "p.Thr851Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}