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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: 6-24533584-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24533584&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24533584,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357578.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Glu494Lys",
"transcript": "NM_001080.3",
"protein_id": "NP_001071.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 535,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": "ENST00000357578.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Glu494Lys",
"transcript": "ENST00000357578.8",
"protein_id": "ENSP00000350191.3",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 535,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": "NM_001080.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "ENST00000348925.2",
"protein_id": "ENSP00000314649.3",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 548,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"transcript": "NM_170740.1",
"protein_id": "NP_733936.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 548,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Glu466Lys",
"transcript": "ENST00000491546.5",
"protein_id": "ENSP00000417687.1",
"transcript_support_level": 5,
"aa_start": 466,
"aa_end": null,
"aa_length": 507,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Glu446Lys",
"transcript": "NM_001368954.1",
"protein_id": "NP_001355883.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 487,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Glu367Lys",
"transcript": "ENST00000672352.1",
"protein_id": "ENSP00000500876.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 408,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "n.595G>A",
"hgvs_p": null,
"transcript": "ENST00000479394.2",
"protein_id": null,
"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": 912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "n.246G>A",
"hgvs_p": null,
"transcript": "ENST00000492697.1",
"protein_id": null,
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "n.*754G>A",
"hgvs_p": null,
"transcript": "ENST00000672652.1",
"protein_id": "ENSP00000500192.1",
"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": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"hgvs_c": "n.*754G>A",
"hgvs_p": null,
"transcript": "ENST00000672652.1",
"protein_id": "ENSP00000500192.1",
"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": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH5A1",
"gene_hgnc_id": 408,
"dbsnp": "rs374232934",
"frequency_reference_population": 0.000032836695,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000335183,
"gnomad_genomes_af": 0.0000262881,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6679021716117859,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.7,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2315,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.29,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357578.8",
"gene_symbol": "ALDH5A1",
"hgnc_id": 408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Glu494Lys"
}
],
"clinvar_disease": "Succinate-semialdehyde dehydrogenase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Succinate-semialdehyde dehydrogenase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}