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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: 20-62889442-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62889442&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62889442,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000395343.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.*1489G>A",
"hgvs_p": null,
"transcript": "ENST00000395340.5",
"protein_id": "ENSP00000378749.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7551,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.3541+1518G>A",
"hgvs_p": null,
"transcript": "NM_001193369.2",
"protein_id": "NP_001180298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": -4,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": "ENST00000395343.6",
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.3541+1518G>A",
"hgvs_p": null,
"transcript": "ENST00000395343.6",
"protein_id": "ENSP00000378752.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": -4,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": "NM_001193369.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.*1489G>A",
"hgvs_p": null,
"transcript": "NM_001193370.2",
"protein_id": "NP_001180299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.*1489G>A",
"hgvs_p": null,
"transcript": "NM_080797.4",
"protein_id": "NP_542987.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7595,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.3541+1518G>A",
"hgvs_p": null,
"transcript": "NM_033081.3",
"protein_id": "NP_149072.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": -4,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8521,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"hgvs_c": "c.3541+1518G>A",
"hgvs_p": null,
"transcript": "ENST00000266070.8",
"protein_id": "ENSP00000266070.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2240,
"cds_start": -4,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DIDO1",
"gene_hgnc_id": 2680,
"dbsnp": "rs3746765",
"frequency_reference_population": 0.35946646,
"hom_count_reference_population": 66421,
"allele_count_reference_population": 354155,
"gnomad_exomes_af": 0.348909,
"gnomad_genomes_af": 0.417283,
"gnomad_exomes_ac": 290677,
"gnomad_genomes_ac": 63478,
"gnomad_exomes_homalt": 51608,
"gnomad_genomes_homalt": 14813,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.575,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "ENST00000395343.6",
"gene_symbol": "DIDO1",
"hgnc_id": 2680,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3541+1518G>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
}