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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: 1-205525170-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205525170&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDK18",
"hgnc_id": 8751,
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_212503.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6882,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8086941838264465,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_212502.3",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000429964.7",
"protein_coding": true,
"protein_id": "NP_997667.1",
"strand": true,
"transcript": "NM_212502.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000429964.7",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_212502.3",
"protein_coding": true,
"protein_id": "ENSP00000399082.2",
"strand": true,
"transcript": "ENST00000429964.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 504,
"aa_ref": "Y",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1515,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000506784.5",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423665.1",
"strand": true,
"transcript": "ENST00000506784.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000360066.6",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353176.2",
"strand": true,
"transcript": "ENST00000360066.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000505932.5",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "n.224A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505932.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515494.5",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "n.1355A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000515494.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Y",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1539,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906021.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576080.1",
"strand": true,
"transcript": "ENST00000906021.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 504,
"aa_ref": "Y",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1515,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_212503.3",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997668.1",
"strand": true,
"transcript": "NM_212503.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 504,
"aa_ref": "Y",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1515,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906028.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576087.1",
"strand": true,
"transcript": "ENST00000906028.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 504,
"aa_ref": "Y",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1515,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906029.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576088.1",
"strand": true,
"transcript": "ENST00000906029.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 504,
"aa_ref": "Y",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1515,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000942642.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.521A>T",
"hgvs_p": "p.Tyr174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612701.1",
"strand": true,
"transcript": "ENST00000942642.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 483,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1452,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927130.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.458A>T",
"hgvs_p": "p.Tyr153Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597189.1",
"strand": true,
"transcript": "ENST00000927130.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "Y",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1428,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942641.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.434A>T",
"hgvs_p": "p.Tyr145Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612700.1",
"strand": true,
"transcript": "ENST00000942641.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002596.4",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002587.2",
"strand": true,
"transcript": "NM_002596.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906025.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576084.1",
"strand": true,
"transcript": "ENST00000906025.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906026.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576085.1",
"strand": true,
"transcript": "ENST00000906026.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906027.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576086.1",
"strand": true,
"transcript": "ENST00000906027.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906030.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576089.1",
"strand": true,
"transcript": "ENST00000906030.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 474,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1425,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906031.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576090.1",
"strand": true,
"transcript": "ENST00000906031.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 473,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1422,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000927129.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597188.1",
"strand": true,
"transcript": "ENST00000927129.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 470,
"aa_ref": "Y",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1413,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906024.1",
"gene_hgnc_id": 8751,
"gene_symbol": "CDK18",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Tyr144Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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