← Back to variant description
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: 11-119278238-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119278238&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119278238,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264033.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "NM_005188.4",
"protein_id": "NP_005179.2",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 906,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 11168,
"mane_select": "ENST00000264033.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "ENST00000264033.6",
"protein_id": "ENSP00000264033.3",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 906,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 11168,
"mane_select": "NM_005188.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "ENST00000634586.1",
"protein_id": "ENSP00000489218.1",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 882,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Asp388Asn",
"transcript": "ENST00000637974.1",
"protein_id": "ENSP00000490763.1",
"transcript_support_level": 5,
"aa_start": 388,
"aa_end": null,
"aa_length": 869,
"cds_start": 1162,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "ENST00000634840.1",
"protein_id": "ENSP00000489324.1",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 862,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "n.*620G>A",
"hgvs_p": null,
"transcript": "ENST00000700472.1",
"protein_id": "ENSP00000515005.1",
"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": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"hgvs_c": "n.*620G>A",
"hgvs_p": null,
"transcript": "ENST00000700472.1",
"protein_id": "ENSP00000515005.1",
"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": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CBL",
"gene_hgnc_id": 1541,
"dbsnp": "rs267606707",
"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": 0.8524690866470337,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.646,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9367,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000264033.6",
"gene_symbol": "CBL",
"hgnc_id": 1541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Asp390Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}