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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: 2-46151070-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46151070&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46151070,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000306156.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Ser587Ser",
"transcript": "NM_005400.3",
"protein_id": "NP_005391.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 737,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": "ENST00000306156.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Ser587Ser",
"transcript": "ENST00000306156.8",
"protein_id": "ENSP00000306124.3",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 737,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": "NM_005400.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Ser587Ser",
"transcript": "XM_005264428.2",
"protein_id": "XP_005264485.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 737,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_011532971.4",
"protein_id": "XP_011531273.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_011532975.4",
"protein_id": "XP_011531277.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_047445094.1",
"protein_id": "XP_047301050.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 7041,
"cdna_end": null,
"cdna_length": 10603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_047445095.1",
"protein_id": "XP_047301051.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 10158,
"cdna_end": null,
"cdna_length": 13720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_047445096.1",
"protein_id": "XP_047301052.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 10172,
"cdna_end": null,
"cdna_length": 13734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_047445097.1",
"protein_id": "XP_047301053.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 10206,
"cdna_end": null,
"cdna_length": 13768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Ser491Ser",
"transcript": "XM_047445098.1",
"protein_id": "XP_047301054.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 641,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Ser473Ser",
"transcript": "XM_011532978.3",
"protein_id": "XP_011531280.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 623,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Ser473Ser",
"transcript": "XM_017004488.3",
"protein_id": "XP_016859977.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 623,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 5997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Ser473Ser",
"transcript": "XM_047445099.1",
"protein_id": "XP_047301055.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 623,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Ser437Ser",
"transcript": "XM_011532980.4",
"protein_id": "XP_011531282.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 587,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Ser437Ser",
"transcript": "XM_011532981.4",
"protein_id": "XP_011531283.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 587,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1311C>T",
"hgvs_p": "p.Ser437Ser",
"transcript": "XM_017004490.3",
"protein_id": "XP_016859979.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 587,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1041C>T",
"hgvs_p": "p.Ser347Ser",
"transcript": "XM_011532982.3",
"protein_id": "XP_011531284.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 497,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Ser310Ser",
"transcript": "XM_006712050.4",
"protein_id": "XP_006712113.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 460,
"cds_start": 930,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Ser286Ser",
"transcript": "XM_011532983.3",
"protein_id": "XP_011531285.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 436,
"cds_start": 858,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.848C>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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.527C>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.18C>T",
"hgvs_p": null,
"transcript": "ENST00000498388.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.-32C>T",
"hgvs_p": null,
"transcript": "ENST00000494472.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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}
],
"gene_symbol": "PRKCE",
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"dbsnp": "rs1143692",
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"allele_count_reference_population": 81887,
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"gnomad_exomes_ac": 75678,
"gnomad_genomes_ac": 6209,
"gnomad_exomes_homalt": 2258,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.431,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000306156.8",
"gene_symbol": "PRKCE",
"hgnc_id": 9401,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Ser587Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}