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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: 9-19409109-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19409109&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19409109,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001010887.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"hgvs_c": "c.25C>A",
"hgvs_p": "p.Gln9Lys",
"transcript": "NM_001010887.3",
"protein_id": "NP_001010887.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 275,
"cds_start": 25,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340967.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010887.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"hgvs_c": "c.25C>A",
"hgvs_p": "p.Gln9Lys",
"transcript": "ENST00000340967.3",
"protein_id": "ENSP00000342609.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 275,
"cds_start": 25,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010887.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340967.3"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"hgvs_c": "c.25C>A",
"hgvs_p": "p.Gln9Lys",
"transcript": "XM_047423336.1",
"protein_id": "XP_047279292.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 217,
"cds_start": 25,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423336.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"hgvs_c": "c.25C>A",
"hgvs_p": "p.Gln9Lys",
"transcript": "XM_011517858.2",
"protein_id": "XP_011516160.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 189,
"cds_start": 25,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517858.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"hgvs_c": "n.101C>A",
"hgvs_p": null,
"transcript": "XR_002956780.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_002956780.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"hgvs_c": "n.101C>A",
"hgvs_p": null,
"transcript": "XR_002956781.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_002956781.2"
}
],
"gene_symbol": "ACER2",
"gene_hgnc_id": 23675,
"dbsnp": "rs10122075",
"frequency_reference_population": 0.00094257295,
"hom_count_reference_population": 13,
"allele_count_reference_population": 1510,
"gnomad_exomes_af": 0.000521497,
"gnomad_genomes_af": 0.00494998,
"gnomad_exomes_ac": 756,
"gnomad_genomes_ac": 754,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008359581232070923,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.0962,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.691,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001010887.3",
"gene_symbol": "ACER2",
"hgnc_id": 23675,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.25C>A",
"hgvs_p": "p.Gln9Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}