← 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: 10-16940152-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=16940152&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 16940152,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000377833.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.5428C>A",
"hgvs_p": "p.Arg1810Arg",
"transcript": "NM_001081.4",
"protein_id": "NP_001072.2",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 3623,
"cds_start": 5428,
"cds_end": null,
"cds_length": 10872,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 11927,
"mane_select": "ENST00000377833.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.5428C>A",
"hgvs_p": "p.Arg1810Arg",
"transcript": "ENST00000377833.10",
"protein_id": "ENSP00000367064.4",
"transcript_support_level": 1,
"aa_start": 1810,
"aa_end": null,
"aa_length": 3623,
"cds_start": 5428,
"cds_end": null,
"cds_length": 10872,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 11927,
"mane_select": "NM_001081.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.5428C>A",
"hgvs_p": "p.Arg1810Arg",
"transcript": "XM_011519708.3",
"protein_id": "XP_011518010.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 2867,
"cds_start": 5428,
"cds_end": null,
"cds_length": 8604,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 8890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.1414C>A",
"hgvs_p": "p.Arg472Arg",
"transcript": "XM_011519709.3",
"protein_id": "XP_011518011.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 2285,
"cds_start": 1414,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 7953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.1390C>A",
"hgvs_p": "p.Arg464Arg",
"transcript": "XM_011519710.3",
"protein_id": "XP_011518012.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 2277,
"cds_start": 1390,
"cds_end": null,
"cds_length": 6834,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 7932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "XM_011519711.4",
"protein_id": "XP_011518013.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 2237,
"cds_start": 1270,
"cds_end": null,
"cds_length": 6714,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 7911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUBN",
"gene_hgnc_id": 2548,
"dbsnp": "rs143944436",
"frequency_reference_population": 6.841115e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84112e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"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": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.222,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377833.10",
"gene_symbol": "CUBN",
"hgnc_id": 2548,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5428C>A",
"hgvs_p": "p.Arg1810Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}