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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: 6-24533635-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24533635&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24533635,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000357578.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"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.1531G>T",
"hgvs_p": "p.Gly511Cys",
"transcript": "NM_001080.3",
"protein_id": "NP_001071.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 535,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": "ENST00000357578.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"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.1531G>T",
"hgvs_p": "p.Gly511Cys",
"transcript": "ENST00000357578.8",
"protein_id": "ENSP00000350191.3",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 535,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": "NM_001080.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"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.1570G>T",
"hgvs_p": "p.Gly524Cys",
"transcript": "ENST00000348925.2",
"protein_id": "ENSP00000314649.3",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 548,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"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.1570G>T",
"hgvs_p": "p.Gly524Cys",
"transcript": "NM_170740.1",
"protein_id": "NP_733936.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 548,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"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.1447G>T",
"hgvs_p": "p.Gly483Cys",
"transcript": "ENST00000491546.5",
"protein_id": "ENSP00000417687.1",
"transcript_support_level": 5,
"aa_start": 483,
"aa_end": null,
"aa_length": 507,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"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.1387G>T",
"hgvs_p": "p.Gly463Cys",
"transcript": "NM_001368954.1",
"protein_id": "NP_001355883.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 487,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"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.1150G>T",
"hgvs_p": "p.Gly384Cys",
"transcript": "ENST00000672352.1",
"protein_id": "ENSP00000500876.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 408,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1150,
"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.646G>T",
"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.297G>T",
"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.*805G>T",
"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.*805G>T",
"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": "rs377658514",
"frequency_reference_population": 0.0000065766976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065767,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9906558990478516,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.949,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7677,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000357578.8",
"gene_symbol": "ALDH5A1",
"hgnc_id": 408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1531G>T",
"hgvs_p": "p.Gly511Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}