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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: 16-27362659-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27362659&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27362659,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000395762.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "NM_000418.4",
"protein_id": "NP_000409.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000395762.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "ENST00000395762.7",
"protein_id": "ENSP00000379111.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_000418.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "ENST00000543915.6",
"protein_id": "ENSP00000441667.2",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "NM_001257406.2",
"protein_id": "NP_001244335.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Ser421Leu",
"transcript": "NM_001257407.2",
"protein_id": "NP_001244336.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 810,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Ser421Leu",
"transcript": "ENST00000170630.6",
"protein_id": "ENSP00000170630.3",
"transcript_support_level": 5,
"aa_start": 421,
"aa_end": null,
"aa_length": 810,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Ser276Leu",
"transcript": "NM_001257997.2",
"protein_id": "NP_001244926.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 665,
"cds_start": 827,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Ser461Leu",
"transcript": "XM_047434066.1",
"protein_id": "XP_047290022.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 850,
"cds_start": 1382,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "XM_011545825.2",
"protein_id": "XP_011544127.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "XM_011545826.3",
"protein_id": "XP_011544128.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "XM_011545827.3",
"protein_id": "XP_011544129.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu",
"transcript": "XM_047434067.1",
"protein_id": "XP_047290023.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 825,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ser347Leu",
"transcript": "XM_011545828.3",
"protein_id": "XP_011544130.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 736,
"cds_start": 1040,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Ser337Leu",
"transcript": "XM_011545833.2",
"protein_id": "XP_011544135.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 726,
"cds_start": 1010,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Ser337Leu",
"transcript": "XM_047434068.1",
"protein_id": "XP_047290024.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 726,
"cds_start": 1010,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Ser295Leu",
"transcript": "XM_011545834.3",
"protein_id": "XP_011544136.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 684,
"cds_start": 884,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Ser139Leu",
"transcript": "XM_005255308.2",
"protein_id": "XP_005255365.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 528,
"cds_start": 416,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2627,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*1350C>T",
"hgvs_p": null,
"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
"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": 2900,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*1350C>T",
"hgvs_p": null,
"transcript": "ENST00000568746.5",
"protein_id": "ENSP00000455714.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.*342C>T",
"hgvs_p": null,
"transcript": "XM_017023211.2",
"protein_id": "XP_016878700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "c.230-1444C>T",
"hgvs_p": null,
"transcript": "ENST00000565352.1",
"protein_id": "ENSP00000461268.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"hgvs_c": "n.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000565915.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL4R",
"gene_hgnc_id": 6015,
"dbsnp": "rs1805013",
"frequency_reference_population": 0.042082958,
"hom_count_reference_population": 1594,
"allele_count_reference_population": 67924,
"gnomad_exomes_af": 0.0427474,
"gnomad_genomes_af": 0.0357002,
"gnomad_exomes_ac": 62491,
"gnomad_genomes_ac": 5433,
"gnomad_exomes_homalt": 1469,
"gnomad_genomes_homalt": 125,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020773708820343018,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.511,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000395762.7",
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ser436Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}