← 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: 7-19117047-CCGCCGCCGCCGCCCG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=19117047&ref=CCGCCGCCGCCGCCCG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 19117047,
"ref": "CCGCCGCCGCCGCCCG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000242261.6",
"consequences": [
{
"aa_ref": "AGGGGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWIST1",
"gene_hgnc_id": 12428,
"hgvs_c": "c.260_274delCGGGCGGCGGCGGCG",
"hgvs_p": "p.Ala87_Gly91del",
"transcript": "NM_000474.4",
"protein_id": "NP_000465.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 202,
"cds_start": 260,
"cds_end": null,
"cds_length": 609,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": "ENST00000242261.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AGGGGG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWIST1",
"gene_hgnc_id": 12428,
"hgvs_c": "c.260_274delCGGGCGGCGGCGGCG",
"hgvs_p": "p.Ala87_Gly91del",
"transcript": "ENST00000242261.6",
"protein_id": "ENSP00000242261.5",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 202,
"cds_start": 260,
"cds_end": null,
"cds_length": 609,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": "NM_000474.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWIST1",
"gene_hgnc_id": 12428,
"hgvs_c": "n.56_70delCGGGCGGCGGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000354571.5",
"protein_id": "ENSP00000346582.5",
"transcript_support_level": 2,
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWIST1",
"gene_hgnc_id": 12428,
"hgvs_c": "n.575_589delCGGGCGGCGGCGGCG",
"hgvs_p": null,
"transcript": "NR_149001.2",
"protein_id": null,
"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": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWIST1",
"gene_hgnc_id": 12428,
"hgvs_c": "n.-140_-126delCGGGCGGCGGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000443687.5",
"protein_id": "ENSP00000416986.1",
"transcript_support_level": 4,
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TWIST1",
"gene_hgnc_id": 12428,
"dbsnp": "rs760471055",
"frequency_reference_population": 0.00010795368,
"hom_count_reference_population": 8,
"allele_count_reference_population": 151,
"gnomad_exomes_af": 0.0000840883,
"gnomad_genomes_af": 0.000306544,
"gnomad_exomes_ac": 105,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.491,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000242261.6",
"gene_symbol": "TWIST1",
"hgnc_id": 12428,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.260_274delCGGGCGGCGGCGGCG",
"hgvs_p": "p.Ala87_Gly91del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}