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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: X-15293230-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=15293230&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 15293230,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080873.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "NM_080873.3",
"protein_id": "NP_543149.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 323,
"cds_start": 460,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000480796.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080873.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "ENST00000480796.6",
"protein_id": "ENSP00000417914.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 323,
"cds_start": 460,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080873.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480796.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Gly137Arg",
"transcript": "ENST00000380470.7",
"protein_id": "ENSP00000369837.3",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 306,
"cds_start": 409,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380470.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "n.460G>A",
"hgvs_p": null,
"transcript": "ENST00000485437.2",
"protein_id": "ENSP00000419385.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000485437.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg",
"transcript": "ENST00000964851.1",
"protein_id": "ENSP00000634910.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 331,
"cds_start": 460,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964851.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Gly137Arg",
"transcript": "NM_001201583.2",
"protein_id": "NP_001188512.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 306,
"cds_start": 409,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201583.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "NM_001012428.2",
"protein_id": "NP_001012428.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 302,
"cds_start": 397,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012428.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"transcript": "ENST00000344384.8",
"protein_id": "ENSP00000343408.4",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 302,
"cds_start": 397,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344384.8"
}
],
"gene_symbol": "ASB11",
"gene_hgnc_id": 17186,
"dbsnp": "rs376376953",
"frequency_reference_population": 0.000009090203,
"hom_count_reference_population": 6,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000910645,
"gnomad_genomes_af": 0.00000893088,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8070933222770691,
"computational_prediction_selected": "Pathogenic",
"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": 0.2905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.647,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_080873.3",
"gene_symbol": "ASB11",
"hgnc_id": 17186,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Gly154Arg"
}
],
"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
}