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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: 12-18282452-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=18282452&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 18282452,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001288772.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "NM_001288772.2",
"protein_id": "NP_001275701.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1486,
"cds_start": 371,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": "ENST00000538779.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000538779.6",
"protein_id": "ENSP00000445381.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 1486,
"cds_start": 371,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": "NM_001288772.2",
"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": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "n.371G>C",
"hgvs_p": null,
"transcript": "ENST00000546003.5",
"protein_id": "ENSP00000441618.1",
"transcript_support_level": 1,
"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": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000675017.1",
"protein_id": "ENSP00000501889.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1486,
"cds_start": 371,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000676171.1",
"protein_id": "ENSP00000501770.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1486,
"cds_start": 371,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "NM_004570.6",
"protein_id": "NP_004561.3",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1445,
"cds_start": 371,
"cds_end": null,
"cds_length": 4338,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000433979.6",
"protein_id": "ENSP00000404845.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 1445,
"cds_start": 371,
"cds_end": null,
"cds_length": 4338,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 4842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000535651.5",
"protein_id": "ENSP00000443850.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 583,
"cds_start": 371,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_017019471.2",
"protein_id": "XP_016874960.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1492,
"cds_start": 371,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_017019473.3",
"protein_id": "XP_016874962.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1492,
"cds_start": 371,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_047429005.1",
"protein_id": "XP_047284961.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1486,
"cds_start": 371,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_047429006.1",
"protein_id": "XP_047284962.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1486,
"cds_start": 371,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_047429007.1",
"protein_id": "XP_047284963.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1481,
"cds_start": 371,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_047429008.1",
"protein_id": "XP_047284964.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1451,
"cds_start": 371,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_047429009.1",
"protein_id": "XP_047284965.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1445,
"cds_start": 371,
"cds_end": null,
"cds_length": 4338,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_011520697.3",
"protein_id": "XP_011518999.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1442,
"cds_start": 371,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_017019475.2",
"protein_id": "XP_016874964.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 1437,
"cds_start": 371,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_011520701.3",
"protein_id": "XP_011519003.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 834,
"cds_start": 371,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "XM_017019478.3",
"protein_id": "XP_016874967.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 834,
"cds_start": 371,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 709,
"cdna_end": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "n.709G>C",
"hgvs_p": null,
"transcript": "XR_931307.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.-289G>C",
"hgvs_p": null,
"transcript": "NM_001288774.2",
"protein_id": "NP_001275703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.-289G>C",
"hgvs_p": null,
"transcript": "XM_047429010.1",
"protein_id": "XP_047284966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RERGL",
"gene_hgnc_id": 26213,
"hgvs_c": "n.149+2853C>G",
"hgvs_p": null,
"transcript": "ENST00000541632.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 731,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"dbsnp": "rs761165027",
"frequency_reference_population": 6.845161e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84516e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03863301873207092,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0617,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.463,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001288772.2",
"gene_symbol": "PIK3C2G",
"hgnc_id": 8973,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000541632.1",
"gene_symbol": "RERGL",
"hgnc_id": 26213,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.149+2853C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}