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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: 3-123447965-CCCGAGT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123447965&ref=CCCGAGT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123447965,
"ref": "CCCGAGT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000462833.6",
"consequences": [
{
"aa_ref": "DSG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.575_580delACTCGG",
"hgvs_p": "p.Asp192_Ser193del",
"transcript": "NM_183357.3",
"protein_id": "NP_899200.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1261,
"cds_start": 575,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": "ENST00000462833.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.575_580delACTCGG",
"hgvs_p": "p.Asp192_Ser193del",
"transcript": "ENST00000462833.6",
"protein_id": "ENSP00000419361.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 1261,
"cds_start": 575,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": "NM_183357.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.737_742delACTCGG",
"hgvs_p": "p.Asp246_Ser247del",
"transcript": "ENST00000850916.1",
"protein_id": "ENSP00000520999.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 1315,
"cds_start": 737,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.575_580delACTCGG",
"hgvs_p": "p.Asp192_Ser193del",
"transcript": "NM_001378259.1",
"protein_id": "NP_001365188.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1286,
"cds_start": 575,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 6718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"hgvs_c": "c.575_580delACTCGG",
"hgvs_p": "p.Asp192_Ser193del",
"transcript": "ENST00000699718.1",
"protein_id": "ENSP00000514543.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1286,
"cds_start": 575,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADCY5",
"gene_hgnc_id": 236,
"dbsnp": "rs1553751196",
"frequency_reference_population": 0.0000068514214,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000685142,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"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": 2.519,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "ENST00000462833.6",
"gene_symbol": "ADCY5",
"hgnc_id": 236,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.575_580delACTCGG",
"hgvs_p": "p.Asp192_Ser193del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}