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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: 9-72925567-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=72925567&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 72925567,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000689.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Met",
"transcript": "NM_000689.5",
"protein_id": "NP_000680.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 501,
"cds_start": 550,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "ENST00000297785.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Met",
"transcript": "ENST00000297785.8",
"protein_id": "ENSP00000297785.3",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 501,
"cds_start": 550,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": "NM_000689.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Met",
"transcript": "ENST00000419959.5",
"protein_id": "ENSP00000388026.1",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 237,
"cds_start": 550,
"cds_end": null,
"cds_length": 716,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Met",
"transcript": "ENST00000376939.5",
"protein_id": "ENSP00000366138.1",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 230,
"cds_start": 550,
"cds_end": null,
"cds_length": 693,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Met",
"transcript": "ENST00000446946.1",
"protein_id": "ENSP00000401361.1",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 202,
"cds_start": 550,
"cds_end": null,
"cds_length": 609,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "n.512C>A",
"hgvs_p": null,
"transcript": "ENST00000482210.5",
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"dbsnp": "rs770966677",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8756190538406372,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.449,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000689.5",
"gene_symbol": "ALDH1A1",
"hgnc_id": 402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Met"
}
],
"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
}