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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: 11-118901038-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118901038&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118901038,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_182557.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala",
"transcript": "NM_001378213.1",
"protein_id": "NP_001365142.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2705,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683865.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378213.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala",
"transcript": "ENST00000683865.1",
"protein_id": "ENSP00000507778.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2705,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378213.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683865.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala",
"transcript": "ENST00000334801.7",
"protein_id": "ENSP00000335320.3",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2705,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334801.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala",
"transcript": "NM_182557.4",
"protein_id": "NP_872363.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2705,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182557.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala",
"transcript": "ENST00000913860.1",
"protein_id": "ENSP00000583919.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2705,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913860.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2594T>C",
"hgvs_p": "p.Val865Ala",
"transcript": "NM_001378214.1",
"protein_id": "NP_001365143.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2594,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378214.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2594T>C",
"hgvs_p": "p.Val865Ala",
"transcript": "NM_001437465.1",
"protein_id": "NP_001424394.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2594,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437465.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2594T>C",
"hgvs_p": "p.Val865Ala",
"transcript": "ENST00000526143.2",
"protein_id": "ENSP00000482938.1",
"transcript_support_level": 5,
"aa_start": 865,
"aa_end": null,
"aa_length": 1462,
"cds_start": 2594,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526143.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2822T>C",
"hgvs_p": "p.Val941Ala",
"transcript": "XM_047426800.1",
"protein_id": "XP_047282756.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1538,
"cds_start": 2822,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426800.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2750T>C",
"hgvs_p": "p.Val917Ala",
"transcript": "XM_011542756.3",
"protein_id": "XP_011541058.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1514,
"cds_start": 2750,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542756.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala",
"transcript": "XM_006718815.4",
"protein_id": "XP_006718878.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1499,
"cds_start": 2705,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718815.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "n.41-277T>C",
"hgvs_p": null,
"transcript": "ENST00000530293.1",
"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": "pseudogene",
"feature": "ENST00000530293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"hgvs_c": "n.1498-840T>C",
"hgvs_p": null,
"transcript": "NR_165445.1",
"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_165445.1"
}
],
"gene_symbol": "BCL9L",
"gene_hgnc_id": 23688,
"dbsnp": "rs34123504",
"frequency_reference_population": 0.011547043,
"hom_count_reference_population": 391,
"allele_count_reference_population": 18218,
"gnomad_exomes_af": 0.0114289,
"gnomad_genomes_af": 0.0126539,
"gnomad_exomes_ac": 16292,
"gnomad_genomes_ac": 1926,
"gnomad_exomes_homalt": 338,
"gnomad_genomes_homalt": 53,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0024467110633850098,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.379,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_182557.4",
"gene_symbol": "BCL9L",
"hgnc_id": 23688,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2705T>C",
"hgvs_p": "p.Val902Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}