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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: 12-56636902-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56636902&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56636902,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "XM_047428142.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428142.1",
"protein_id": "XP_047284098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1955,
"cds_start": -4,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428142.1",
"protein_id": "XP_047284098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1955,
"cds_start": -4,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "n.-86G>C",
"hgvs_p": null,
"transcript": "ENST00000550730.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428139.1",
"protein_id": "XP_047284095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1962,
"cds_start": -4,
"cds_end": null,
"cds_length": 5889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428141.1",
"protein_id": "XP_047284097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1961,
"cds_start": -4,
"cds_end": null,
"cds_length": 5886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428144.1",
"protein_id": "XP_047284100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1954,
"cds_start": -4,
"cds_end": null,
"cds_length": 5865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428145.1",
"protein_id": "XP_047284101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1932,
"cds_start": -4,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-479G>C",
"hgvs_p": null,
"transcript": "XM_047428147.1",
"protein_id": "XP_047284103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": -4,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-365G>C",
"hgvs_p": null,
"transcript": "XM_047428148.1",
"protein_id": "XP_047284104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1931,
"cds_start": -4,
"cds_end": null,
"cds_length": 5796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428151.1",
"protein_id": "XP_047284107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1925,
"cds_start": -4,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428155.1",
"protein_id": "XP_047284111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1924,
"cds_start": -4,
"cds_end": null,
"cds_length": 5775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"hgvs_c": "c.-44G>C",
"hgvs_p": null,
"transcript": "XM_047428166.1",
"protein_id": "XP_047284122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1884,
"cds_start": -4,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BAZ2A",
"gene_hgnc_id": 962,
"dbsnp": "rs1107479",
"frequency_reference_population": 0.000006580506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658051,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.882,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047428142.1",
"gene_symbol": "BAZ2A",
"hgnc_id": 962,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-44G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}