← 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: 1-165663123-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=165663123&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 165663123,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000696.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His",
"transcript": "NM_000696.4",
"protein_id": "NP_000687.3",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 518,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354775.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000696.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His",
"transcript": "ENST00000354775.5",
"protein_id": "ENSP00000346827.4",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 518,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000696.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354775.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Arg494His",
"transcript": "ENST00000865475.1",
"protein_id": "ENSP00000535534.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 517,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865475.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"transcript": "ENST00000865474.1",
"protein_id": "ENSP00000535533.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 508,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865474.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484His",
"transcript": "ENST00000923581.1",
"protein_id": "ENSP00000593640.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 507,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923581.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401His",
"transcript": "NM_001365774.2",
"protein_id": "NP_001352703.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 424,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365774.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Arg294His",
"transcript": "ENST00000865476.1",
"protein_id": "ENSP00000535535.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 317,
"cds_start": 881,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865476.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ALDH9A1",
"gene_hgnc_id": 412,
"hgvs_c": "n.211G>A",
"hgvs_p": null,
"transcript": "ENST00000463610.1",
"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": "ENST00000463610.1"
}
],
"gene_symbol": "ALDH9A1",
"gene_hgnc_id": 412,
"dbsnp": "rs150833939",
"frequency_reference_population": 0.000265794,
"hom_count_reference_population": 1,
"allele_count_reference_population": 429,
"gnomad_exomes_af": 0.000277756,
"gnomad_genomes_af": 0.000151002,
"gnomad_exomes_ac": 406,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19074198603630066,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1393,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000696.4",
"gene_symbol": "ALDH9A1",
"hgnc_id": 412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}