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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: 15-67236036-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67236036&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67236036,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261880.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.394A>T",
"hgvs_p": "p.Ile132Phe",
"transcript": "NM_024666.5",
"protein_id": "NP_078942.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 315,
"cds_start": 394,
"cds_end": null,
"cds_length": 948,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "ENST00000261880.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.394A>T",
"hgvs_p": "p.Ile132Phe",
"transcript": "ENST00000261880.10",
"protein_id": "ENSP00000261880.5",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 315,
"cds_start": 394,
"cds_end": null,
"cds_length": 948,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "NM_024666.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.67A>T",
"hgvs_p": "p.Ile23Phe",
"transcript": "NM_001271885.2",
"protein_id": "NP_001258814.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 206,
"cds_start": 67,
"cds_end": null,
"cds_length": 621,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.67A>T",
"hgvs_p": "p.Ile23Phe",
"transcript": "NM_001271886.2",
"protein_id": "NP_001258815.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 206,
"cds_start": 67,
"cds_end": null,
"cds_length": 621,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.67A>T",
"hgvs_p": "p.Ile23Phe",
"transcript": "ENST00000542650.5",
"protein_id": "ENSP00000440735.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 206,
"cds_start": 67,
"cds_end": null,
"cds_length": 621,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.67A>T",
"hgvs_p": "p.Ile23Phe",
"transcript": "ENST00000561452.5",
"protein_id": "ENSP00000453263.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 206,
"cds_start": 67,
"cds_end": null,
"cds_length": 621,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.67A>T",
"hgvs_p": "p.Ile23Phe",
"transcript": "ENST00000560362.1",
"protein_id": "ENSP00000453059.1",
"transcript_support_level": 4,
"aa_start": 23,
"aa_end": null,
"aa_length": 57,
"cds_start": 67,
"cds_end": null,
"cds_length": 174,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.394A>T",
"hgvs_p": "p.Ile132Phe",
"transcript": "XM_024450052.2",
"protein_id": "XP_024305820.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 206,
"cds_start": 394,
"cds_end": null,
"cds_length": 621,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "c.394A>T",
"hgvs_p": "p.Ile132Phe",
"transcript": "XM_024450053.2",
"protein_id": "XP_024305821.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 194,
"cds_start": 394,
"cds_end": null,
"cds_length": 585,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "n.417A>T",
"hgvs_p": null,
"transcript": "ENST00000558725.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"hgvs_c": "n.424A>T",
"hgvs_p": null,
"transcript": "XR_007064489.1",
"protein_id": null,
"transcript_support_level": null,
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AAGAB",
"gene_hgnc_id": 25662,
"dbsnp": "rs7173826",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8539595603942871,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7323,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.023,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261880.10",
"gene_symbol": "AAGAB",
"hgnc_id": 25662,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.394A>T",
"hgvs_p": "p.Ile132Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}