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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: 12-67312686-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=67312686&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 67312686,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_018448.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.3549G>A",
"hgvs_p": "p.Leu1183Leu",
"transcript": "NM_018448.5",
"protein_id": "NP_060918.2",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3549,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000545606.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018448.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.3549G>A",
"hgvs_p": "p.Leu1183Leu",
"transcript": "ENST00000545606.6",
"protein_id": "ENSP00000442318.1",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3549,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018448.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545606.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.2169G>A",
"hgvs_p": "p.Leu723Leu",
"transcript": "ENST00000544619.1",
"protein_id": "ENSP00000444089.1",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 770,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544619.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.3477G>A",
"hgvs_p": "p.Leu1159Leu",
"transcript": "NM_001329674.2",
"protein_id": "NP_001316603.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329674.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.3477G>A",
"hgvs_p": "p.Leu1159Leu",
"transcript": "NM_001329675.2",
"protein_id": "NP_001316604.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329675.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.3450G>A",
"hgvs_p": "p.Leu1150Leu",
"transcript": "NM_001329676.2",
"protein_id": "NP_001316605.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3450,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329676.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"hgvs_c": "c.3384G>A",
"hgvs_p": "p.Leu1128Leu",
"transcript": "ENST00000909423.1",
"protein_id": "ENSP00000579482.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3384,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909423.1"
}
],
"gene_symbol": "CAND1",
"gene_hgnc_id": 30688,
"dbsnp": "rs1060350",
"frequency_reference_population": 0.5616764,
"hom_count_reference_population": 260499,
"allele_count_reference_population": 905811,
"gnomad_exomes_af": 0.569815,
"gnomad_genomes_af": 0.483427,
"gnomad_exomes_ac": 832364,
"gnomad_genomes_ac": 73447,
"gnomad_exomes_homalt": 241229,
"gnomad_genomes_homalt": 19270,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.843,
"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": "NM_018448.5",
"gene_symbol": "CAND1",
"hgnc_id": 30688,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3549G>A",
"hgvs_p": "p.Leu1183Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}