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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: 19-52300416-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52300416&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52300416,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000595962.6",
"consequences": [
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs",
"transcript": "NM_144684.4",
"protein_id": "NP_653285.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 535,
"cds_start": 9,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": "ENST00000595962.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs",
"transcript": "ENST00000595962.6",
"protein_id": "ENSP00000471754.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 535,
"cds_start": 9,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": "NM_144684.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "n.9_10delTG",
"hgvs_p": null,
"transcript": "ENST00000468240.6",
"protein_id": "ENSP00000417424.1",
"transcript_support_level": 2,
"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": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs",
"transcript": "NM_001297624.2",
"protein_id": "NP_001284553.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 492,
"cds_start": 9,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 4617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs",
"transcript": "ENST00000334564.11",
"protein_id": "ENSP00000334164.6",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 492,
"cds_start": 9,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs",
"transcript": "ENST00000598016.5",
"protein_id": "ENSP00000473023.1",
"transcript_support_level": 4,
"aa_start": 3,
"aa_end": null,
"aa_length": 164,
"cds_start": 9,
"cds_end": null,
"cds_length": 495,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs",
"transcript": "ENST00000490272.1",
"protein_id": "ENSP00000418618.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 61,
"cds_start": 9,
"cds_end": null,
"cds_length": 186,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.-96_-95delTG",
"hgvs_p": null,
"transcript": "NM_001297625.2",
"protein_id": "NP_001284554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"hgvs_c": "c.-96_-95delTG",
"hgvs_p": null,
"transcript": "ENST00000335090.6",
"protein_id": "ENSP00000335670.6",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF480",
"gene_hgnc_id": 23305,
"dbsnp": "rs3217319",
"frequency_reference_population": 0.71314156,
"hom_count_reference_population": 415545,
"allele_count_reference_population": 1150082,
"gnomad_exomes_af": 0.721947,
"gnomad_genomes_af": 0.628289,
"gnomad_exomes_ac": 1054817,
"gnomad_genomes_ac": 95265,
"gnomad_exomes_homalt": 383900,
"gnomad_genomes_homalt": 31645,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.031,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000595962.6",
"gene_symbol": "ZNF480",
"hgnc_id": 23305,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.9_10delTG",
"hgvs_p": "p.Cys3fs"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}