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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: 15-63345543-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63345543&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63345543,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000178638.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.363C>A",
"hgvs_p": "p.His121Gln",
"transcript": "NM_001218.5",
"protein_id": "NP_001209.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 354,
"cds_start": 363,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 6098,
"mane_select": "ENST00000178638.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.363C>A",
"hgvs_p": "p.His121Gln",
"transcript": "ENST00000178638.8",
"protein_id": "ENSP00000178638.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 354,
"cds_start": 363,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 6098,
"mane_select": "NM_001218.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.363C>A",
"hgvs_p": "p.His121Gln",
"transcript": "ENST00000344366.7",
"protein_id": "ENSP00000343088.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 343,
"cds_start": 363,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.363C>A",
"hgvs_p": "p.His121Gln",
"transcript": "NM_206925.3",
"protein_id": "NP_996808.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 343,
"cds_start": 363,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 6065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.183C>A",
"hgvs_p": "p.His61Gln",
"transcript": "NM_001293642.2",
"protein_id": "NP_001280571.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 283,
"cds_start": 183,
"cds_end": null,
"cds_length": 852,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 5885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "c.183C>A",
"hgvs_p": "p.His61Gln",
"transcript": "ENST00000422263.2",
"protein_id": "ENSP00000403028.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 283,
"cds_start": 183,
"cds_end": null,
"cds_length": 852,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 2556,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"hgvs_c": "n.536C>A",
"hgvs_p": null,
"transcript": "NR_135511.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CA12",
"gene_hgnc_id": 1371,
"dbsnp": "rs775067652",
"frequency_reference_population": 0.0000013689854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136899,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9927482604980469,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.783,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9812,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.671,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000178638.8",
"gene_symbol": "CA12",
"hgnc_id": 1371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.363C>A",
"hgvs_p": "p.His121Gln"
}
],
"clinvar_disease": "Isolated hyperchlorhidrosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Isolated hyperchlorhidrosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}