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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: 11-67997690-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67997690&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67997690,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_030930.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.890delT",
"hgvs_p": "p.Phe297fs",
"transcript": "NM_030930.4",
"protein_id": "NP_112192.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 597,
"cds_start": 890,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000227471.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030930.4"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.890delT",
"hgvs_p": "p.Phe297fs",
"transcript": "ENST00000227471.7",
"protein_id": "ENSP00000227471.3",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 597,
"cds_start": 890,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030930.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227471.7"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.929delT",
"hgvs_p": "p.Phe310fs",
"transcript": "ENST00000864508.1",
"protein_id": "ENSP00000534567.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 610,
"cds_start": 929,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864508.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.914delT",
"hgvs_p": "p.Phe305fs",
"transcript": "ENST00000864509.1",
"protein_id": "ENSP00000534568.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 605,
"cds_start": 914,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864509.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.890delT",
"hgvs_p": "p.Phe297fs",
"transcript": "ENST00000864507.1",
"protein_id": "ENSP00000534566.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 595,
"cds_start": 890,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864507.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.737delT",
"hgvs_p": "p.Phe246fs",
"transcript": "ENST00000864506.1",
"protein_id": "ENSP00000534565.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 546,
"cds_start": 737,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864506.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.728delT",
"hgvs_p": "p.Phe243fs",
"transcript": "ENST00000959345.1",
"protein_id": "ENSP00000629404.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 543,
"cds_start": 728,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959345.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.479delT",
"hgvs_p": "p.Phe160fs",
"transcript": "XM_011545290.1",
"protein_id": "XP_011543592.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 460,
"cds_start": 479,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545290.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.335delT",
"hgvs_p": "p.Phe112fs",
"transcript": "XM_011545291.3",
"protein_id": "XP_011543593.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 412,
"cds_start": 335,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545291.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.688-907delT",
"hgvs_p": null,
"transcript": "ENST00000930952.1",
"protein_id": "ENSP00000601011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "n.1384delT",
"hgvs_p": null,
"transcript": "ENST00000533424.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000533424.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "n.888delT",
"hgvs_p": null,
"transcript": "ENST00000622364.4",
"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": "ENST00000622364.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "n.*28delT",
"hgvs_p": null,
"transcript": "ENST00000531152.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000531152.3"
}
],
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"dbsnp": "rs1060499915",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"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": 7.303,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_030930.4",
"gene_symbol": "UNC93B1",
"hgnc_id": 13481,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "SD,AR",
"hgvs_c": "c.890delT",
"hgvs_p": "p.Phe297fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}