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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: 14-61443198-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61443198&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRKCH",
"hgnc_id": 9403,
"hgvs_c": "c.515A>T",
"hgvs_p": "p.His172Leu",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_006255.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9986,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9897733926773071,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 683,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 2052,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006255.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.515A>T",
"hgvs_p": "p.His172Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000332981.11",
"protein_coding": true,
"protein_id": "NP_006246.2",
"strand": true,
"transcript": "NM_006255.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 683,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 2052,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000332981.11",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.515A>T",
"hgvs_p": "p.His172Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006255.5",
"protein_coding": true,
"protein_id": "ENSP00000329127.5",
"strand": true,
"transcript": "ENST00000332981.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 250,
"cds_end": null,
"cds_length": 1569,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555082.6",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450981.1",
"strand": true,
"transcript": "ENST00000555082.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 223,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 938,
"cdna_start": 297,
"cds_end": null,
"cds_length": 673,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000557585.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451930.1",
"strand": true,
"transcript": "ENST00000557585.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 143,
"aa_ref": "H",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 514,
"cdna_start": 421,
"cds_end": null,
"cds_length": 434,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553830.1",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.341A>T",
"hgvs_p": "p.His114Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452588.1",
"strand": true,
"transcript": "ENST00000553830.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 128,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": 188,
"cds_end": null,
"cds_length": 389,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000556778.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452055.1",
"strand": true,
"transcript": "ENST00000556778.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 105,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": 280,
"cds_end": null,
"cds_length": 319,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000557473.1",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452528.1",
"strand": true,
"transcript": "ENST00000557473.1",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 86,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": 321,
"cds_end": null,
"cds_length": 263,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553265.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451933.1",
"strand": true,
"transcript": "ENST00000553265.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 82,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": 327,
"cds_end": null,
"cds_length": 250,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553831.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450959.1",
"strand": true,
"transcript": "ENST00000553831.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 72,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": 272,
"cds_end": null,
"cds_length": 219,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555906.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451205.1",
"strand": true,
"transcript": "ENST00000555906.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 70,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 429,
"cdna_start": 247,
"cds_end": null,
"cds_length": 214,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000556164.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452330.1",
"strand": true,
"transcript": "ENST00000556164.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 14,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 521,
"cdna_start": 508,
"cds_end": null,
"cds_length": 45,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555542.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451789.1",
"strand": true,
"transcript": "ENST00000555542.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 782,
"aa_ref": "H",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2349,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047431585.1",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.812A>T",
"hgvs_p": "p.His271Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287541.1",
"strand": true,
"transcript": "XM_047431585.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 604,
"aa_ref": "H",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11151,
"cdna_start": 8469,
"cds_end": null,
"cds_length": 1815,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011536954.4",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.278A>T",
"hgvs_p": "p.His93Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535256.1",
"strand": true,
"transcript": "XM_011536954.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 603,
"aa_ref": "H",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6162,
"cdna_start": 3480,
"cds_end": null,
"cds_length": 1812,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011536955.2",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.275A>T",
"hgvs_p": "p.His92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535257.1",
"strand": true,
"transcript": "XM_011536955.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1569,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024449661.2",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305429.1",
"strand": true,
"transcript": "XM_024449661.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 522,
"aa_ref": "H",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1569,
"cds_start": 32,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024449662.2",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.32A>T",
"hgvs_p": "p.His11Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305430.1",
"strand": true,
"transcript": "XM_024449662.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 508,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1527,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047431586.1",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.515A>T",
"hgvs_p": "p.His172Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287542.1",
"strand": true,
"transcript": "XM_047431586.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 489,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1470,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011536957.2",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.515A>T",
"hgvs_p": "p.His172Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535259.1",
"strand": true,
"transcript": "XM_011536957.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": 454,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555185.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.-18-42304A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451871.1",
"strand": true,
"transcript": "ENST00000555185.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 52,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": 159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553726.5",
"gene_hgnc_id": 9403,
"gene_symbol": "PRKCH",
"hgvs_c": "c.-229-2494A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451793.1",
"strand": true,
"transcript": "ENST00000553726.5",
"transcript_support_level": 5
}
],
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}
]
}