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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: 3-9914595-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9914595&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9914595,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000383814.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1344G>C",
"hgvs_p": "p.Pro448Pro",
"transcript": "NM_153480.2",
"protein_id": "NP_705613.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 667,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "ENST00000383814.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1344G>C",
"hgvs_p": "p.Pro448Pro",
"transcript": "ENST00000383814.8",
"protein_id": "ENSP00000373325.3",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 667,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "NM_153480.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Pro481Pro",
"transcript": "ENST00000421412.5",
"protein_id": "ENSP00000404916.1",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 700,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "NM_001193380.2",
"protein_id": "NP_001180309.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 533,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "ENST00000454190.6",
"protein_id": "ENSP00000388086.2",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 533,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "XM_047447460.1",
"protein_id": "XP_047303416.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 533,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Arg497Pro",
"transcript": "XM_024453350.2",
"protein_id": "XP_024309118.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 506,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1189G>C",
"hgvs_p": "p.Gly397Arg",
"transcript": "XM_011533362.3",
"protein_id": "XP_011531664.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 457,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1262G>C",
"hgvs_p": "p.Arg421Pro",
"transcript": "XM_047447462.1",
"protein_id": "XP_047303418.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 430,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1464G>C",
"hgvs_p": "p.Pro488Pro",
"transcript": "NM_153483.2",
"protein_id": "NP_705616.2",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 707,
"cds_start": 1464,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Pro332Pro",
"transcript": "NM_153481.2",
"protein_id": "NP_705614.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 551,
"cds_start": 996,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1344G>C",
"hgvs_p": "p.Pro448Pro",
"transcript": "XM_047447458.1",
"protein_id": "XP_047303414.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 667,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1344G>C",
"hgvs_p": "p.Pro448Pro",
"transcript": "XM_047447459.1",
"protein_id": "XP_047303415.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 667,
"cds_start": 1344,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.1224G>C",
"hgvs_p": "p.Pro408Pro",
"transcript": "XM_011533361.4",
"protein_id": "XP_011531663.2",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 627,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.996G>C",
"hgvs_p": "p.Pro332Pro",
"transcript": "XM_006712976.2",
"protein_id": "XP_006713039.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 551,
"cds_start": 996,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.447G>C",
"hgvs_p": "p.Pro149Pro",
"transcript": "XM_047447463.1",
"protein_id": "XP_047303419.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 368,
"cds_start": 447,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Pro138Pro",
"transcript": "XM_047447464.1",
"protein_id": "XP_047303420.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 357,
"cds_start": 414,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1790,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.*913G>C",
"hgvs_p": null,
"transcript": "ENST00000383815.7",
"protein_id": "ENSP00000373326.3",
"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": 2808,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.*767G>C",
"hgvs_p": null,
"transcript": "ENST00000434065.5",
"protein_id": "ENSP00000415701.1",
"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": 2541,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.1559G>C",
"hgvs_p": null,
"transcript": "NR_104198.2",
"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": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.*913G>C",
"hgvs_p": null,
"transcript": "ENST00000383815.7",
"protein_id": "ENSP00000373326.3",
"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": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.*767G>C",
"hgvs_p": null,
"transcript": "ENST00000434065.5",
"protein_id": "ENSP00000415701.1",
"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.*189G>C",
"hgvs_p": null,
"transcript": "XM_011533364.3",
"protein_id": "XP_011531666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "IL17RE",
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"dbsnp": "rs455863",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205248,
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"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14104515314102173,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.1037,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.328,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000383814.8",
"gene_symbol": "IL17RE",
"hgnc_id": 18439,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1344G>C",
"hgvs_p": "p.Pro448Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}