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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: 1-2055515-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2055515&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRKCZ",
"hgnc_id": 9412,
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_002744.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2366,
"alphamissense_prediction": null,
"alphamissense_score": 0.0644,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004143059253692627,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1779,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002744.6",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1779,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378567.8",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 276,
"cds_end": null,
"cds_length": 2052,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965048.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1803,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877863.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 282,
"cds_end": null,
"cds_length": 1794,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877864.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 313,
"cds_end": null,
"cds_length": 1692,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000877862.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1512,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000926524.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 180,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": 292,
"cds_end": null,
"cds_length": 544,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000468310.5",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424945.1",
"strand": true,
"transcript": "ENST00000468310.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 64,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 468,
"cdna_start": 280,
"cds_end": null,
"cds_length": 196,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000503297.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421587.1",
"strand": true,
"transcript": "ENST00000503297.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1812,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017001789.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1803,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017001790.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1788,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011541773.2",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"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": "H",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1764,
"cds_start": 131,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047425255.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.131G>A",
"hgvs_p": "p.Arg44His",
"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": "H",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 332,
"cds_end": null,
"cds_length": 1674,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047425260.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281216.1",
"strand": true,
"transcript": "XM_047425260.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 332,
"cds_end": null,
"cds_length": 1641,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047425262.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281218.1",
"strand": true,
"transcript": "XM_047425262.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1251,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011541775.4",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540077.1",
"strand": true,
"transcript": "XM_011541775.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 358,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1331,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1077,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017001803.3",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Arg49His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857292.1",
"strand": true,
"transcript": "XM_017001803.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479566.5",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "n.75G>A",
"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": "ENST00000479566.5",
"transcript_support_level": 3
},
{
"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": 519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000484419.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "n.274G>A",
"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": "ENST00000484419.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007061965.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "n.366G>A",
"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": "XR_007061965.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007061966.1",
"gene_hgnc_id": 9412,
"gene_symbol": "PRKCZ",
"hgvs_c": "n.366G>A",
"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": "XR_007061966.1",
"transcript_support_level": null
},
{
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]
}