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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: 7-91026725-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=91026725&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 91026725,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001287135.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "NM_001287135.2",
"protein_id": "NP_001274064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380050.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287135.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000380050.8",
"protein_id": "ENSP00000369390.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001287135.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380050.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.988-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000265741.7",
"protein_id": "ENSP00000265741.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265741.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.904-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000406263.5",
"protein_id": "ENSP00000385034.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1150-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000962109.1",
"protein_id": "ENSP00000632168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": null,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1099-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000859639.1",
"protein_id": "ENSP00000529698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859639.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1069-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000915549.1",
"protein_id": "ENSP00000585608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000859640.1",
"protein_id": "ENSP00000529699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000859642.1",
"protein_id": "ENSP00000529701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000859643.1",
"protein_id": "ENSP00000529702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000915551.1",
"protein_id": "ENSP00000585610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cds_length": 1410,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915551.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000962110.1",
"protein_id": "ENSP00000632169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cds_length": 1410,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000962110.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1042-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000962111.1",
"protein_id": "ENSP00000632170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962111.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.1039-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000915548.1",
"protein_id": "ENSP00000585607.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000915548.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.988-19172G>T",
"hgvs_p": null,
"transcript": "NM_012395.3",
"protein_id": "NP_036527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012395.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.979-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000915550.1",
"protein_id": "ENSP00000585609.1",
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"biotype": "protein_coding",
"feature": "ENST00000915550.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.904-19172G>T",
"hgvs_p": null,
"transcript": "NM_001287136.1",
"protein_id": "NP_001274065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287136.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.796-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000859638.1",
"protein_id": "ENSP00000529697.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000859638.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.796-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000859641.1",
"protein_id": "ENSP00000529700.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.655-19172G>T",
"hgvs_p": null,
"transcript": "NM_001287137.1",
"protein_id": "NP_001274066.1",
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"biotype": "protein_coding",
"feature": "NM_001287137.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"hgvs_c": "c.655-19172G>T",
"hgvs_p": null,
"transcript": "ENST00000436577.3",
"protein_id": "ENSP00000398936.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
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"cds_length": 1023,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436577.3"
}
],
"gene_symbol": "CDK14",
"gene_hgnc_id": 8883,
"dbsnp": "rs10488001",
"frequency_reference_population": 0.06505315,
"hom_count_reference_population": 409,
"allele_count_reference_population": 9902,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0650531,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 9902,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 409,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.077,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001287135.2",
"gene_symbol": "CDK14",
"hgnc_id": 8883,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1042-19172G>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
}