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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: 1-16051504-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16051504&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CLCNKB",
"hgnc_id": 2027,
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000085.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 181588,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000085.5",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375679.9",
"protein_coding": true,
"protein_id": "NP_000076.2",
"strand": true,
"transcript": "NM_000085.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000375679.9",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000085.5",
"protein_coding": true,
"protein_id": "ENSP00000364831.5",
"strand": true,
"transcript": "ENST00000375679.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 705,
"aa_ref": "T",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000906263.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Thr436Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576322.1",
"strand": true,
"transcript": "ENST00000906263.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 704,
"aa_ref": "T",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000906270.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Thr436Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576329.1",
"strand": true,
"transcript": "ENST00000906270.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 694,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906271.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576330.1",
"strand": true,
"transcript": "ENST00000906271.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 693,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906265.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576324.1",
"strand": true,
"transcript": "ENST00000906265.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 692,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906262.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576321.1",
"strand": true,
"transcript": "ENST00000906262.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 691,
"aa_ref": "T",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906261.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Thr422Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576320.1",
"strand": true,
"transcript": "ENST00000906261.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 690,
"aa_ref": "T",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906268.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Thr422Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576327.1",
"strand": true,
"transcript": "ENST00000906268.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000682338.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507062.1",
"strand": true,
"transcript": "ENST00000682338.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000682793.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506910.1",
"strand": true,
"transcript": "ENST00000682793.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000684324.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507937.1",
"strand": true,
"transcript": "ENST00000684324.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000684545.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506733.1",
"strand": true,
"transcript": "ENST00000684545.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000906275.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576334.1",
"strand": true,
"transcript": "ENST00000906275.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000683578.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507430.1",
"strand": true,
"transcript": "ENST00000683578.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906258.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576317.1",
"strand": true,
"transcript": "ENST00000906258.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906259.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576318.1",
"strand": true,
"transcript": "ENST00000906259.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 686,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000906274.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576333.1",
"strand": true,
"transcript": "ENST00000906274.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 684,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906272.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576331.1",
"strand": true,
"transcript": "ENST00000906272.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 683,
"aa_ref": "T",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1254,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906260.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1254C>T",
"hgvs_p": "p.Thr418Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576319.1",
"strand": true,
"transcript": "ENST00000906260.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1194,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
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