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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: 1-2173976-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2173976&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PRKCZ",
"hgnc_id": 9412,
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Thr455Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_002744.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 1065,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002744.6",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Thr455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378567.8",
"protein_coding": true,
"protein_id": "NP_002735.3",
"strand": true,
"transcript": "NM_002744.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000378567.8",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Thr455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002744.6",
"protein_coding": true,
"protein_id": "ENSP00000367830.3",
"strand": true,
"transcript": "ENST00000378567.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 409,
"aa_ref": "T",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1230,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000400921.6",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Thr272Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383712.2",
"strand": true,
"transcript": "ENST00000400921.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 683,
"aa_ref": "T",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1638,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965048.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1638C>T",
"hgvs_p": "p.Thr546Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635107.1",
"strand": true,
"transcript": "ENST00000965048.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 600,
"aa_ref": "T",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000877863.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1389C>T",
"hgvs_p": "p.Thr463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547922.1",
"strand": true,
"transcript": "ENST00000877863.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 597,
"aa_ref": "T",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000877864.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Thr455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547923.1",
"strand": true,
"transcript": "ENST00000877864.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 563,
"aa_ref": "T",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000877862.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Thr426Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547921.1",
"strand": true,
"transcript": "ENST00000877862.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926524.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.Thr366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596583.1",
"strand": true,
"transcript": "ENST00000926524.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "T",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1053,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001242874.3",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Thr351Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229803.1",
"strand": true,
"transcript": "NM_001242874.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 488,
"aa_ref": "T",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1053,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000461106.6",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Thr351Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426412.1",
"strand": true,
"transcript": "ENST00000461106.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 417,
"aa_ref": "T",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1254,
"cds_start": 840,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350803.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Thr280Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337732.1",
"strand": true,
"transcript": "NM_001350803.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 417,
"aa_ref": "T",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1254,
"cds_start": 840,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350804.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.840C>T",
"hgvs_p": "p.Thr280Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337733.1",
"strand": true,
"transcript": "NM_001350804.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 409,
"aa_ref": "T",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1230,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001033581.3",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Thr272Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028753.1",
"strand": true,
"transcript": "NM_001033581.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 409,
"aa_ref": "T",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1230,
"cds_start": 816,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001033582.3",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Thr272Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028754.1",
"strand": true,
"transcript": "NM_001033582.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 355,
"aa_ref": "T",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1068,
"cds_start": 654,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350805.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Thr218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337734.1",
"strand": true,
"transcript": "NM_001350805.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 355,
"aa_ref": "T",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1068,
"cds_start": 654,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350806.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.654C>T",
"hgvs_p": "p.Thr218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337735.1",
"strand": true,
"transcript": "NM_001350806.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 603,
"aa_ref": "T",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017001789.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1389C>T",
"hgvs_p": "p.Thr463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857278.1",
"strand": true,
"transcript": "XM_017001789.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 600,
"aa_ref": "T",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1389,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017001790.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1389C>T",
"hgvs_p": "p.Thr463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857279.1",
"strand": true,
"transcript": "XM_017001790.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 595,
"aa_ref": "T",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1365,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011541773.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Thr455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540075.1",
"strand": true,
"transcript": "XM_011541773.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1350,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425255.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.1350C>T",
"hgvs_p": "p.Thr450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281211.1",
"strand": true,
"transcript": "XM_047425255.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "T",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1251,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425260.1",
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{
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]
}