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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: 9-38396146-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=38396146&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 38396146,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000692.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly",
"transcript": "NM_000692.5",
"protein_id": "NP_000683.3",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 517,
"cds_start": 398,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377698.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000692.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly",
"transcript": "ENST00000377698.4",
"protein_id": "ENSP00000366927.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 517,
"cds_start": 398,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000692.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377698.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly",
"transcript": "ENST00000897464.1",
"protein_id": "ENSP00000567523.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 517,
"cds_start": 398,
"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": "ENST00000897464.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly",
"transcript": "ENST00000897465.1",
"protein_id": "ENSP00000567524.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 517,
"cds_start": 398,
"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": "ENST00000897465.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly",
"transcript": "ENST00000928834.1",
"protein_id": "ENSP00000598893.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 517,
"cds_start": 398,
"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": "ENST00000928834.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly",
"transcript": "ENST00000969483.1",
"protein_id": "ENSP00000639542.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 517,
"cds_start": 398,
"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": "ENST00000969483.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "XM_011517802.3",
"protein_id": "XP_011516104.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 564,
"cds_start": 539,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517802.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ALDH1B1",
"gene_hgnc_id": 407,
"hgvs_c": "c.*8A>G",
"hgvs_p": null,
"transcript": "ENST00000635162.1",
"protein_id": "ENSP00000489053.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635162.1"
}
],
"gene_symbol": "ALDH1B1",
"gene_hgnc_id": 407,
"dbsnp": "rs745913809",
"frequency_reference_population": 0.0000030978897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": 0.0000131484,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17265868186950684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4336,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.123,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000692.5",
"gene_symbol": "ALDH1B1",
"hgnc_id": 407,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Glu133Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}