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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: 15-100885336-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=100885336&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 100885336,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000693.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "NM_000693.4",
"protein_id": "NP_000684.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 512,
"cds_start": 172,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329841.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000693.4"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000329841.10",
"protein_id": "ENSP00000332256.5",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 512,
"cds_start": 172,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000693.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329841.10"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000346623.6",
"protein_id": "ENSP00000343294.6",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 405,
"cds_start": 172,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346623.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "n.232delG",
"hgvs_p": null,
"transcript": "ENST00000560555.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560555.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000856095.1",
"protein_id": "ENSP00000526154.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 545,
"cds_start": 172,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856095.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000856096.1",
"protein_id": "ENSP00000526155.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 516,
"cds_start": 172,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856096.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000916367.1",
"protein_id": "ENSP00000586426.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 469,
"cds_start": 172,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916367.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000953140.1",
"protein_id": "ENSP00000623199.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 465,
"cds_start": 172,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953140.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000916366.1",
"protein_id": "ENSP00000586425.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 457,
"cds_start": 172,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916366.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "ENST00000916365.1",
"protein_id": "ENSP00000586424.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 448,
"cds_start": 172,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916365.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs",
"transcript": "NM_001293815.2",
"protein_id": "NP_001280744.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 405,
"cds_start": 172,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293815.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "c.88delG",
"hgvs_p": "p.Glu30fs",
"transcript": "ENST00000561338.5",
"protein_id": "ENSP00000452789.1",
"transcript_support_level": 4,
"aa_start": 30,
"aa_end": null,
"aa_length": 143,
"cds_start": 88,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561338.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "n.172delG",
"hgvs_p": null,
"transcript": "ENST00000558033.5",
"protein_id": "ENSP00000454107.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558033.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"hgvs_c": "n.*8delG",
"hgvs_p": null,
"transcript": "ENST00000558568.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558568.1"
}
],
"gene_symbol": "ALDH1A3",
"gene_hgnc_id": 409,
"dbsnp": "rs768001237",
"frequency_reference_population": 6.843297e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8433e-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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.821,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_000693.4",
"gene_symbol": "ALDH1A3",
"hgnc_id": 409,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.172delG",
"hgvs_p": "p.Glu58fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}