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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: 1-150804062-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150804062&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTSK",
"hgnc_id": 2536,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000396.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_score": 4,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.2034,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Pyknodysostosis,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6436057090759277,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 625,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000396.4",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271651.8",
"protein_coding": true,
"protein_id": "NP_000387.1",
"strand": false,
"transcript": "NM_000396.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 625,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000271651.8",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000396.4",
"protein_coding": true,
"protein_id": "ENSP00000271651.3",
"strand": false,
"transcript": "ENST00000271651.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1167,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000443913.2",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405083.2",
"strand": false,
"transcript": "ENST00000443913.2",
"transcript_support_level": 3
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1032,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000677887.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503876.1",
"strand": false,
"transcript": "ENST00000677887.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1026,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000678337.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504759.1",
"strand": false,
"transcript": "ENST00000678337.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1014,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962229.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632288.1",
"strand": false,
"transcript": "ENST00000962229.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 334,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1005,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962227.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632286.1",
"strand": false,
"transcript": "ENST00000962227.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1002,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676970.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503832.1",
"strand": false,
"transcript": "ENST00000676970.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 625,
"cds_end": null,
"cds_length": 993,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676751.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502964.1",
"strand": false,
"transcript": "ENST00000676751.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 891,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676824.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504176.1",
"strand": false,
"transcript": "ENST00000676824.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 716,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676966.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503723.1",
"strand": false,
"transcript": "ENST00000676966.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962228.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632287.1",
"strand": false,
"transcript": "ENST00000962228.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 630,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962230.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632289.1",
"strand": false,
"transcript": "ENST00000962230.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 300,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 570,
"cds_end": null,
"cds_length": 903,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962226.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632285.1",
"strand": false,
"transcript": "ENST00000962226.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 455,
"cds_end": null,
"cds_length": 867,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676716.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504737.1",
"strand": false,
"transcript": "ENST00000676716.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 236,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 396,
"cds_end": null,
"cds_length": 711,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923236.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Arg100Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593295.1",
"strand": false,
"transcript": "ENST00000923236.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679260.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "c.399+1799C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504534.1",
"strand": false,
"transcript": "ENST00000679260.1",
"transcript_support_level": null
},
{
"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": 4619,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000480670.2",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "n.3646C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000480670.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000676680.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "n.577C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503270.1",
"strand": false,
"transcript": "ENST00000676680.1",
"transcript_support_level": null
},
{
"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": 3358,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000677330.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "n.2403C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000677330.1",
"transcript_support_level": null
},
{
"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": 1427,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000677611.1",
"gene_hgnc_id": 2536,
"gene_symbol": "CTSK",
"hgvs_c": "n.429C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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"transcript": "ENST00000677611.1",
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}