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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: 12-52949556-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=52949556&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP5",
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KRT18",
"hgnc_id": 6430,
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_000224.3",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP5",
"BP4",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KRT8",
"hgnc_id": 6446,
"hgvs_c": "c.-47+159T>A",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_001256293.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5,BP4,BS2",
"acmg_score": -4,
"allele_count_reference_population": 519,
"alphamissense_prediction": null,
"alphamissense_score": 0.1367,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "12",
"clinvar_classification": " risk factor,Pathogenic",
"clinvar_disease": " cryptogenic, noncryptogenic, susceptibility to,Cirrhosis,not provided",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07254549860954285,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_000224.3",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000388835.4",
"protein_coding": true,
"protein_id": "NP_000215.1",
"strand": true,
"transcript": "NM_000224.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000388835.4",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000224.3",
"protein_coding": true,
"protein_id": "ENSP00000373487.3",
"strand": true,
"transcript": "ENST00000388835.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 391,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 437,
"cds_end": null,
"cds_length": 1176,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000550600.5",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447278.1",
"strand": true,
"transcript": "ENST00000550600.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 442,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1329,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000872040.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542099.1",
"strand": true,
"transcript": "ENST00000872040.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 440,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1323,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000872041.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542100.1",
"strand": true,
"transcript": "ENST00000872041.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 468,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_199187.2",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_954657.1",
"strand": true,
"transcript": "NM_199187.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000388837.6",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373489.2",
"strand": true,
"transcript": "ENST00000388837.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 448,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872037.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542096.1",
"strand": true,
"transcript": "ENST00000872037.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930587.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600646.1",
"strand": true,
"transcript": "ENST00000930587.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930588.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600647.1",
"strand": true,
"transcript": "ENST00000930588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930589.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600648.1",
"strand": true,
"transcript": "ENST00000930589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1293,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930590.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600649.1",
"strand": true,
"transcript": "ENST00000930590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 429,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1290,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872038.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542097.1",
"strand": true,
"transcript": "ENST00000872038.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 429,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 471,
"cds_end": null,
"cds_length": 1290,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000872039.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542098.1",
"strand": true,
"transcript": "ENST00000872039.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1287,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000946970.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617029.1",
"strand": true,
"transcript": "ENST00000946970.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 438,
"cds_end": null,
"cds_length": 1239,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000946971.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617030.1",
"strand": true,
"transcript": "ENST00000946971.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 392,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1179,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000872043.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542102.1",
"strand": true,
"transcript": "ENST00000872043.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 338,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1017,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000930593.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600652.1",
"strand": true,
"transcript": "ENST00000930593.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 298,
"aa_ref": "H",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 441,
"cds_end": null,
"cds_length": 897,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000930591.1",
"gene_hgnc_id": 6430,
"gene_symbol": "KRT18",
"hgvs_c": "c.383A>T",
"hgvs_p": "p.His128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600650.1",
"strand": true,
"transcript": "ENST00000930591.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": null,
"cds_end": null,
"cds_length": 1452,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000552551.5",
"gene_hgnc_id": 6446,
"gene_symbol": "KRT8",
"hgvs_c": "c.-147T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447566.1",
"strand": false,
"transcript": "ENST00000552551.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": null,
"cds_end": null,
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]
}