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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: 11-72139110-CTA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72139110&ref=CTA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72139110,
"ref": "CTA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000804.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs",
"transcript": "NM_000804.4",
"protein_id": "NP_000795.2",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 245,
"cds_start": 320,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611028.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000804.4"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs",
"transcript": "ENST00000611028.3",
"protein_id": "ENSP00000481114.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 245,
"cds_start": 320,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000804.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611028.3"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "n.448_449delAT",
"hgvs_p": null,
"transcript": "ENST00000612844.4",
"protein_id": "ENSP00000481027.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000612844.4"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs",
"transcript": "ENST00000897859.1",
"protein_id": "ENSP00000567918.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 245,
"cds_start": 320,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897859.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs",
"transcript": "ENST00000946849.1",
"protein_id": "ENSP00000616908.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 245,
"cds_start": 320,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946849.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs",
"transcript": "ENST00000946850.1",
"protein_id": "ENSP00000616909.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 245,
"cds_start": 320,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946850.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs",
"transcript": "ENST00000622388.4",
"protein_id": "ENSP00000481833.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 177,
"cds_start": 320,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622388.4"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.396+52_396+53delAT",
"hgvs_p": null,
"transcript": "ENST00000897860.1",
"protein_id": "ENSP00000567919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897860.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "n.498_499delAT",
"hgvs_p": null,
"transcript": "NR_178088.1",
"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": "pseudogene",
"feature": "NR_178088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "c.*89_*90delTA",
"hgvs_p": null,
"transcript": "ENST00000546166.1",
"protein_id": "ENSP00000446279.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"hgvs_c": "n.-139_-138delTA",
"hgvs_p": null,
"transcript": "ENST00000545379.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000545379.1"
}
],
"gene_symbol": "FOLR3",
"gene_hgnc_id": 3795,
"dbsnp": "rs71891516",
"frequency_reference_population": 0.9179383,
"hom_count_reference_population": 681325,
"allele_count_reference_population": 1481255,
"gnomad_exomes_af": 0.922621,
"gnomad_genomes_af": 0.872944,
"gnomad_exomes_ac": 1348482,
"gnomad_genomes_ac": 132773,
"gnomad_exomes_homalt": 622876,
"gnomad_genomes_homalt": 58449,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.804,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_000804.4",
"gene_symbol": "FOLR3",
"hgnc_id": 3795,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.320_321delAT",
"hgvs_p": "p.Tyr107fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}