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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: 5-55908359-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55908359&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55908359,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000652347.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly",
"transcript": "NM_139017.7",
"protein_id": "NP_620586.3",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 764,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 8239,
"mane_select": "ENST00000652347.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly",
"transcript": "ENST00000652347.2",
"protein_id": "ENSP00000498630.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 764,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 8239,
"mane_select": "NM_139017.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly",
"transcript": "ENST00000359040.10",
"protein_id": "ENSP00000351935.5",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 681,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1023T>C",
"hgvs_p": "p.Gly341Gly",
"transcript": "ENST00000490985.5",
"protein_id": "ENSP00000427533.1",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 622,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly",
"transcript": "ENST00000396836.6",
"protein_id": "ENSP00000380048.2",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 582,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 2426,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.*1600T>C",
"hgvs_p": null,
"transcript": "ENST00000396834.6",
"protein_id": "ENSP00000380046.2",
"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": 2903,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.*1600T>C",
"hgvs_p": null,
"transcript": "ENST00000396834.6",
"protein_id": "ENSP00000380046.2",
"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": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1392T>C",
"hgvs_p": "p.Gly464Gly",
"transcript": "NM_001242636.2",
"protein_id": "NP_001229565.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 745,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1392T>C",
"hgvs_p": "p.Gly464Gly",
"transcript": "ENST00000297015.7",
"protein_id": "ENSP00000297015.4",
"transcript_support_level": 5,
"aa_start": 464,
"aa_end": null,
"aa_length": 745,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1392T>C",
"hgvs_p": "p.Gly464Gly",
"transcript": "ENST00000652039.2",
"protein_id": "ENSP00000498914.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 740,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly",
"transcript": "NM_001242637.2",
"protein_id": "NP_001229566.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 681,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1392T>C",
"hgvs_p": "p.Gly464Gly",
"transcript": "NM_001242638.2",
"protein_id": "NP_001229567.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 662,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1392T>C",
"hgvs_p": "p.Gly464Gly",
"transcript": "ENST00000354961.8",
"protein_id": "ENSP00000347047.4",
"transcript_support_level": 5,
"aa_start": 464,
"aa_end": null,
"aa_length": 662,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1023T>C",
"hgvs_p": "p.Gly341Gly",
"transcript": "NM_001242639.2",
"protein_id": "NP_001229568.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 622,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly",
"transcript": "NM_001297570.3",
"protein_id": "NP_001284499.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 582,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1353T>C",
"hgvs_p": "p.Gly451Gly",
"transcript": "XM_011543142.3",
"protein_id": "XP_011541444.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 732,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1023T>C",
"hgvs_p": "p.Gly341Gly",
"transcript": "XM_047416700.1",
"protein_id": "XP_047272656.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 622,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Gly313Gly",
"transcript": "XM_011543145.2",
"protein_id": "XP_011541447.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 594,
"cds_start": 939,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1023T>C",
"hgvs_p": "p.Gly341Gly",
"transcript": "XM_047416701.1",
"protein_id": "XP_047272657.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 539,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2346,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.*1379T>C",
"hgvs_p": null,
"transcript": "ENST00000651239.1",
"protein_id": "ENSP00000498264.1",
"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": 2451,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.2403T>C",
"hgvs_p": null,
"transcript": "ENST00000652528.1",
"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": 3197,
"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": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.*1379T>C",
"hgvs_p": null,
"transcript": "ENST00000651239.1",
"protein_id": "ENSP00000498264.1",
"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": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"dbsnp": "rs9632389",
"frequency_reference_population": 0.0000013680957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.612,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000652347.2",
"gene_symbol": "IL31RA",
"hgnc_id": 18969,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.Gly483Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}