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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: 1-52162617-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52162617&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52162617,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_004799.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "NM_004799.4",
"protein_id": "NP_004790.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": null,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287727.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004799.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000287727.8",
"protein_id": "ENSP00000287727.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": null,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004799.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287727.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-324+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000371591.2",
"protein_id": "ENSP00000360647.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": null,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371591.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000357206.6",
"protein_id": "ENSP00000349737.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357206.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "n.30+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000361625.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000361625.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-321+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000941736.1",
"protein_id": "ENSP00000611795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": null,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000886337.1",
"protein_id": "ENSP00000556396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1414,
"cds_start": null,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000886335.1",
"protein_id": "ENSP00000556394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1398,
"cds_start": null,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "ENST00000886336.1",
"protein_id": "ENSP00000556395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1389,
"cds_start": null,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null,
"transcript": "NM_007324.5",
"protein_id": "NP_015563.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": null,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007324.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000223429",
"gene_hgnc_id": null,
"hgvs_c": "n.410T>C",
"hgvs_p": null,
"transcript": "ENST00000412785.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "processed_pseudogene",
"feature": "ENST00000412785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC724060",
"gene_hgnc_id": null,
"hgvs_c": "n.52162617A>G",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFYVE9",
"gene_hgnc_id": 6775,
"dbsnp": "rs10888748",
"frequency_reference_population": 0.78858775,
"hom_count_reference_population": 84601,
"allele_count_reference_population": 200929,
"gnomad_exomes_af": 0.86382,
"gnomad_genomes_af": 0.737762,
"gnomad_exomes_ac": 88742,
"gnomad_genomes_ac": 112187,
"gnomad_exomes_homalt": 38800,
"gnomad_genomes_homalt": 45801,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.286,
"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": "NM_004799.4",
"gene_symbol": "ZFYVE9",
"hgnc_id": 6775,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-143+20214A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000412785.1",
"gene_symbol": "ENSG00000223429",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.410T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "",
"gene_symbol": "LOC724060",
"hgnc_id": null,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.52162617A>G",
"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
}