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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: 2-113131084-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=113131084&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 113131084,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000409930.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.245T>A",
"hgvs_p": "p.Phe82Tyr",
"transcript": "NM_173842.3",
"protein_id": "NP_776214.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 177,
"cds_start": 245,
"cds_end": null,
"cds_length": 534,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": "ENST00000409930.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.245T>A",
"hgvs_p": "p.Phe82Tyr",
"transcript": "ENST00000409930.4",
"protein_id": "ENSP00000387173.3",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 177,
"cds_start": 245,
"cds_end": null,
"cds_length": 534,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": "NM_173842.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.254T>A",
"hgvs_p": "p.Phe85Tyr",
"transcript": "ENST00000259206.9",
"protein_id": "ENSP00000259206.5",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 180,
"cds_start": 254,
"cds_end": null,
"cds_length": 543,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.191T>A",
"hgvs_p": "p.Phe64Tyr",
"transcript": "ENST00000354115.6",
"protein_id": "ENSP00000329072.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 159,
"cds_start": 191,
"cds_end": null,
"cds_length": 480,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "ENST00000361779.7",
"protein_id": "ENSP00000354816.3",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.254T>A",
"hgvs_p": "p.Phe85Tyr",
"transcript": "NM_173841.3",
"protein_id": "NP_776213.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 180,
"cds_start": 254,
"cds_end": null,
"cds_length": 543,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.191T>A",
"hgvs_p": "p.Phe64Tyr",
"transcript": "NM_000577.5",
"protein_id": "NP_000568.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 159,
"cds_start": 191,
"cds_end": null,
"cds_length": 480,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "NM_001318914.2",
"protein_id": "NP_001305843.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "NM_001379360.1",
"protein_id": "NP_001366289.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "NM_173843.3",
"protein_id": "NP_776215.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "ENST00000696879.1",
"protein_id": "ENSP00000512947.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 1203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "ENST00000696881.1",
"protein_id": "ENSP00000512949.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "XM_011511121.2",
"protein_id": "XP_011509423.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "XM_047444184.1",
"protein_id": "XP_047300140.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "XM_047444185.1",
"protein_id": "XP_047300141.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "c.143T>A",
"hgvs_p": "p.Phe48Tyr",
"transcript": "XM_047444186.1",
"protein_id": "XP_047300142.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 143,
"cds_start": 143,
"cds_end": null,
"cds_length": 432,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2213,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "n.143T>A",
"hgvs_p": null,
"transcript": "ENST00000409052.6",
"protein_id": "ENSP00000387210.1",
"transcript_support_level": 5,
"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": 2133,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "n.143T>A",
"hgvs_p": null,
"transcript": "ENST00000696880.1",
"protein_id": "ENSP00000512948.1",
"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": 1144,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "n.*15T>A",
"hgvs_p": null,
"transcript": "ENST00000696882.1",
"protein_id": "ENSP00000512950.1",
"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": 1098,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "n.190T>A",
"hgvs_p": null,
"transcript": "ENST00000696883.1",
"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": 545,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"hgvs_c": "n.*15T>A",
"hgvs_p": null,
"transcript": "ENST00000696882.1",
"protein_id": "ENSP00000512950.1",
"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": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL1RN",
"gene_hgnc_id": 6000,
"dbsnp": "rs1553469985",
"frequency_reference_population": 6.842201e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8422e-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": 0.7490193247795105,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.2206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.364,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409930.4",
"gene_symbol": "IL1RN",
"hgnc_id": 6000,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.245T>A",
"hgvs_p": "p.Phe82Tyr"
}
],
"clinvar_disease": "Sterile multifocal osteomyelitis with periostitis and pustulosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Sterile multifocal osteomyelitis with periostitis and pustulosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}