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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: 1-100468020-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100468020&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100468020,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000336454.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "NM_003672.4",
"protein_id": "NP_003663.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 594,
"cds_start": 903,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": "ENST00000336454.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "ENST00000336454.5",
"protein_id": "ENSP00000336739.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 594,
"cds_start": 903,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": "NM_003672.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "ENST00000361544.11",
"protein_id": "ENSP00000354916.6",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 623,
"cds_start": 903,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "ENST00000370124.8",
"protein_id": "ENSP00000359142.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 383,
"cds_start": 903,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.906T>A",
"hgvs_p": "p.His302Gln",
"transcript": "ENST00000644676.1",
"protein_id": "ENSP00000494661.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 624,
"cds_start": 906,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "NM_033312.3",
"protein_id": "NP_201569.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 623,
"cds_start": 903,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "NM_001319210.2",
"protein_id": "NP_001306139.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 610,
"cds_start": 903,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "ENST00000644813.1",
"protein_id": "ENSP00000496374.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 610,
"cds_start": 903,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.924T>A",
"hgvs_p": "p.His308Gln",
"transcript": "ENST00000717967.1",
"protein_id": "ENSP00000520653.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 601,
"cds_start": 924,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.729T>A",
"hgvs_p": "p.His243Gln",
"transcript": "NM_001319211.2",
"protein_id": "NP_001306140.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 565,
"cds_start": 729,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.729T>A",
"hgvs_p": "p.His243Gln",
"transcript": "ENST00000635056.2",
"protein_id": "ENSP00000489217.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 565,
"cds_start": 729,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.729T>A",
"hgvs_p": "p.His243Gln",
"transcript": "ENST00000647005.1",
"protein_id": "ENSP00000495617.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 552,
"cds_start": 729,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln",
"transcript": "NM_033313.3",
"protein_id": "NP_201570.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 383,
"cds_start": 903,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.24T>A",
"hgvs_p": "p.His8Gln",
"transcript": "NM_001319212.2",
"protein_id": "NP_001306141.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 330,
"cds_start": 24,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.729T>A",
"hgvs_p": null,
"transcript": "ENST00000644844.1",
"protein_id": "ENSP00000494417.1",
"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": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*239T>A",
"hgvs_p": null,
"transcript": "ENST00000646563.1",
"protein_id": "ENSP00000493651.1",
"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": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*552T>A",
"hgvs_p": null,
"transcript": "ENST00000646665.1",
"protein_id": "ENSP00000496153.1",
"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": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.729T>A",
"hgvs_p": null,
"transcript": "ENST00000647203.1",
"protein_id": "ENSP00000494551.1",
"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": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*239T>A",
"hgvs_p": null,
"transcript": "ENST00000646563.1",
"protein_id": "ENSP00000493651.1",
"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": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*552T>A",
"hgvs_p": null,
"transcript": "ENST00000646665.1",
"protein_id": "ENSP00000496153.1",
"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": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228086",
"gene_hgnc_id": null,
"hgvs_c": "n.83-5112A>T",
"hgvs_p": null,
"transcript": "ENST00000432210.1",
"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": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"dbsnp": "rs17122597",
"frequency_reference_population": 0.000006571511,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657151,
"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": 0.7571418285369873,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.521,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "ENST00000336454.5",
"gene_symbol": "CDC14A",
"hgnc_id": 1718,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.903T>A",
"hgvs_p": "p.His301Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000432210.1",
"gene_symbol": "ENSG00000228086",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.83-5112A>T",
"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
}