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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: 11-117642116-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117642116&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117642116,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000651296.2",
"consequences": [
{
"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": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.512-109594G>A",
"hgvs_p": null,
"transcript": "NM_020693.4",
"protein_id": "NP_065744.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2053,
"cds_start": -4,
"cds_end": null,
"cds_length": 6162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": "ENST00000651296.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.512-109594G>A",
"hgvs_p": null,
"transcript": "ENST00000651296.2",
"protein_id": "ENSP00000498769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2053,
"cds_start": -4,
"cds_end": null,
"cds_length": 6162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": "NM_020693.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.692-109594G>A",
"hgvs_p": null,
"transcript": "ENST00000321322.6",
"protein_id": "ENSP00000315465.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2113,
"cds_start": -4,
"cds_end": null,
"cds_length": 6342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.692-109594G>A",
"hgvs_p": null,
"transcript": "ENST00000651172.1",
"protein_id": "ENSP00000498407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2113,
"cds_start": -4,
"cds_end": null,
"cds_length": 6342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.103-117107G>A",
"hgvs_p": null,
"transcript": "ENST00000527706.5",
"protein_id": "ENSP00000434335.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1843,
"cds_start": -4,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.512-109594G>A",
"hgvs_p": null,
"transcript": "NM_001367904.1",
"protein_id": "NP_001354833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": -4,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.104-109594G>A",
"hgvs_p": null,
"transcript": "NM_001367905.1",
"protein_id": "NP_001354834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.512-109594G>A",
"hgvs_p": null,
"transcript": "XM_011542917.3",
"protein_id": "XP_011541219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2065,
"cds_start": -4,
"cds_end": null,
"cds_length": 6198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"hgvs_c": "c.248-109594G>A",
"hgvs_p": null,
"transcript": "XM_011542918.2",
"protein_id": "XP_011541220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": -4,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSCAML1",
"gene_hgnc_id": 14656,
"dbsnp": "rs480801",
"frequency_reference_population": 0.7385991,
"hom_count_reference_population": 42031,
"allele_count_reference_population": 112304,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.738599,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 112304,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 42031,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.229,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000651296.2",
"gene_symbol": "DSCAML1",
"hgnc_id": 14656,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.512-109594G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}