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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: 19-47695362-CAGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47695362&ref=CAGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47695362,
"ref": "CAGG",
"alt": "C",
"effect": "frameshift_variant,splice_acceptor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000594866.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRA",
"gene_hgnc_id": 4332,
"hgvs_c": "c.3077-2_3077delAGG",
"hgvs_p": "p.Gly1026fs",
"transcript": "NM_001394372.1",
"protein_id": "NP_001381301.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": "ENST00000594866.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRA",
"gene_hgnc_id": 4332,
"hgvs_c": "c.3077-2_3077delAGG",
"hgvs_p": "p.Gly1026fs",
"transcript": "ENST00000594866.3",
"protein_id": "ENSP00000469738.2",
"transcript_support_level": 2,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": "NM_001394372.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRA",
"gene_hgnc_id": 4332,
"hgvs_c": "c.3077-2_3077delAGG",
"hgvs_p": "p.Gly1026fs",
"transcript": "NM_015711.3",
"protein_id": "NP_056526.3",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRA",
"gene_hgnc_id": 4332,
"hgvs_c": "c.3077-2_3077delAGG",
"hgvs_p": "p.Gly1026fs",
"transcript": "ENST00000396720.7",
"protein_id": "ENSP00000379946.2",
"transcript_support_level": 5,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3077,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRA",
"gene_hgnc_id": 4332,
"hgvs_c": "c.2351-2_2351delAGG",
"hgvs_p": "p.Gly784fs",
"transcript": "ENST00000614245.2",
"protein_id": "ENSP00000480219.2",
"transcript_support_level": 5,
"aa_start": 784,
"aa_end": null,
"aa_length": 1318,
"cds_start": 2351,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268746",
"gene_hgnc_id": null,
"hgvs_c": "n.87-36702_87-36700delAGG",
"hgvs_p": null,
"transcript": "ENST00000599924.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BICRA",
"gene_hgnc_id": 4332,
"dbsnp": "rs745483989",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0134788,
"gnomad_genomes_af": 0.0284525,
"gnomad_exomes_ac": 13436,
"gnomad_genomes_ac": 3526,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.9700000286102295,
"splice_prediction_selected": "Pathogenic",
"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": 3.227,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.97,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,BP6_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 2,
"pathogenic_score": 8,
"criteria": [
"PVS1",
"BP6_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000594866.3",
"gene_symbol": "BICRA",
"hgnc_id": 4332,
"effects": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3077-2_3077delAGG",
"hgvs_p": "p.Gly1026fs"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000599924.1",
"gene_symbol": "ENSG00000268746",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.87-36702_87-36700delAGG",
"hgvs_p": null
}
],
"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
}