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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: 2-46086342-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46086342&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46086342,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000306156.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1572C>T",
"hgvs_p": "p.His524His",
"transcript": "NM_005400.3",
"protein_id": "NP_005391.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 737,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": "ENST00000306156.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1572C>T",
"hgvs_p": "p.His524His",
"transcript": "ENST00000306156.8",
"protein_id": "ENSP00000306124.3",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 737,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": "NM_005400.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1572C>T",
"hgvs_p": "p.His524His",
"transcript": "XM_005264428.2",
"protein_id": "XP_005264485.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 737,
"cds_start": 1572,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_011532971.4",
"protein_id": "XP_011531273.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_011532975.4",
"protein_id": "XP_011531277.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_047445094.1",
"protein_id": "XP_047301050.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 6852,
"cdna_end": null,
"cdna_length": 10603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_047445095.1",
"protein_id": "XP_047301051.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 9969,
"cdna_end": null,
"cdna_length": 13720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_047445096.1",
"protein_id": "XP_047301052.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 9983,
"cdna_end": null,
"cdna_length": 13734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_047445097.1",
"protein_id": "XP_047301053.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 10017,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.His428His",
"transcript": "XM_047445098.1",
"protein_id": "XP_047301054.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 641,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1230C>T",
"hgvs_p": "p.His410His",
"transcript": "XM_011532978.3",
"protein_id": "XP_011531280.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 623,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1230C>T",
"hgvs_p": "p.His410His",
"transcript": "XM_017004488.3",
"protein_id": "XP_016859977.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 623,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1230C>T",
"hgvs_p": "p.His410His",
"transcript": "XM_047445099.1",
"protein_id": "XP_047301055.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 623,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.His374His",
"transcript": "XM_011532980.4",
"protein_id": "XP_011531282.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 587,
"cds_start": 1122,
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"cds_length": 1764,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.His374His",
"transcript": "XM_011532981.4",
"protein_id": "XP_011531283.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 587,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.His374His",
"transcript": "XM_017004490.3",
"protein_id": "XP_016859979.1",
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"aa_start": 374,
"aa_end": null,
"aa_length": 587,
"cds_start": 1122,
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"cdna_start": 2352,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.852C>T",
"hgvs_p": "p.His284His",
"transcript": "XM_011532982.3",
"protein_id": "XP_011531284.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 497,
"cds_start": 852,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.His247His",
"transcript": "XM_006712050.4",
"protein_id": "XP_006712113.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 460,
"cds_start": 741,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.His223His",
"transcript": "XM_011532983.3",
"protein_id": "XP_011531285.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 436,
"cds_start": 669,
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"cdna_start": 772,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.659C>T",
"hgvs_p": null,
"transcript": "ENST00000469753.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.338C>T",
"hgvs_p": null,
"transcript": "ENST00000480633.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"dbsnp": "rs1143691",
"frequency_reference_population": 0.10316531,
"hom_count_reference_population": 11785,
"allele_count_reference_population": 164996,
"gnomad_exomes_af": 0.104874,
"gnomad_genomes_af": 0.0869242,
"gnomad_exomes_ac": 151763,
"gnomad_genomes_ac": 13233,
"gnomad_exomes_homalt": 10765,
"gnomad_genomes_homalt": 1020,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.121,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000306156.8",
"gene_symbol": "PRKCE",
"hgnc_id": 9401,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1572C>T",
"hgvs_p": "p.His524His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}