← Back to variant description
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: 3-48174446-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48174446&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48174446,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000302506.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Cys256Trp",
"transcript": "NM_001789.3",
"protein_id": "NP_001780.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 524,
"cds_start": 768,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": "ENST00000302506.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Cys256Trp",
"transcript": "ENST00000302506.8",
"protein_id": "ENSP00000303706.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 524,
"cds_start": 768,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": "NM_001789.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.648C>G",
"hgvs_p": "p.Cys216Trp",
"transcript": "ENST00000351231.7",
"protein_id": "ENSP00000343166.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 484,
"cds_start": 648,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.648C>G",
"hgvs_p": "p.Cys216Trp",
"transcript": "NM_201567.2",
"protein_id": "NP_963861.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 484,
"cds_start": 648,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Cys256Trp",
"transcript": "XM_047449363.1",
"protein_id": "XP_047305319.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 524,
"cds_start": 768,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Cys255Trp",
"transcript": "XM_047449364.1",
"protein_id": "XP_047305320.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 523,
"cds_start": 765,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.648C>G",
"hgvs_p": "p.Cys216Trp",
"transcript": "XM_047449365.1",
"protein_id": "XP_047305321.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 484,
"cds_start": 648,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.645C>G",
"hgvs_p": "p.Cys215Trp",
"transcript": "XM_047449366.1",
"protein_id": "XP_047305322.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 483,
"cds_start": 645,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 3567,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "n.308C>G",
"hgvs_p": null,
"transcript": "ENST00000459900.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"hgvs_c": "c.757-30C>G",
"hgvs_p": null,
"transcript": "XM_047449367.1",
"protein_id": "XP_047305323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": -4,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDC25A",
"gene_hgnc_id": 1725,
"dbsnp": "rs1426856754",
"frequency_reference_population": 0.000001243059,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.86445e-7,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.786851167678833,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.1953,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.725,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302506.8",
"gene_symbol": "CDC25A",
"hgnc_id": 1725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Cys256Trp"
}
],
"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
}