← Back to variant description
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: 2-102235248-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102235248&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102235248,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000264257.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro",
"transcript": "NM_003854.4",
"protein_id": "NP_003845.2",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": "ENST00000264257.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro",
"transcript": "ENST00000264257.7",
"protein_id": "ENSP00000264257.2",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": "NM_003854.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Leu432Pro",
"transcript": "ENST00000441515.3",
"protein_id": "ENSP00000413348.2",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 457,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro",
"transcript": "NM_001351446.2",
"protein_id": "NP_001338375.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 575,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Leu432Pro",
"transcript": "NM_001351447.1",
"protein_id": "NP_001338376.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 457,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1223T>C",
"hgvs_p": "p.Leu408Pro",
"transcript": "NM_001351448.1",
"protein_id": "NP_001338377.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 433,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Leu399Pro",
"transcript": "NM_001351449.2",
"protein_id": "NP_001338378.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 424,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Leu399Pro",
"transcript": "NM_001351450.2",
"protein_id": "NP_001338379.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 424,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro",
"transcript": "XM_011512094.2",
"protein_id": "XP_011510396.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 595,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 6444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1646T>C",
"hgvs_p": "p.Leu549Pro",
"transcript": "XM_011512091.2",
"protein_id": "XP_011510393.2",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 594,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1646T>C",
"hgvs_p": "p.Leu549Pro",
"transcript": "XM_047446164.1",
"protein_id": "XP_047302120.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 594,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro",
"transcript": "XM_011512092.2",
"protein_id": "XP_011510394.2",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 589,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro",
"transcript": "XM_017005174.3",
"protein_id": "XP_016860663.2",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 578,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1574T>C",
"hgvs_p": "p.Leu525Pro",
"transcript": "XM_011512093.2",
"protein_id": "XP_011510395.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 570,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 6404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1574T>C",
"hgvs_p": "p.Leu525Pro",
"transcript": "XM_047446165.1",
"protein_id": "XP_047302121.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 550,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1487T>C",
"hgvs_p": "p.Leu496Pro",
"transcript": "XM_011512096.2",
"protein_id": "XP_011510398.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 541,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Leu399Pro",
"transcript": "XM_006712822.4",
"protein_id": "XP_006712885.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 444,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"transcript": "XM_047446166.1",
"protein_id": "XP_047302122.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 289,
"cds_start": 731,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 5757,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"hgvs_c": "n.1311T>C",
"hgvs_p": null,
"transcript": "ENST00000481806.1",
"protein_id": null,
"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": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL1RL2",
"gene_hgnc_id": 5999,
"dbsnp": "rs2302612",
"frequency_reference_population": 0.21642956,
"hom_count_reference_population": 45103,
"allele_count_reference_population": 349242,
"gnomad_exomes_af": 0.208086,
"gnomad_genomes_af": 0.296585,
"gnomad_exomes_ac": 304122,
"gnomad_genomes_ac": 45120,
"gnomad_exomes_homalt": 36802,
"gnomad_genomes_homalt": 8301,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000043625725083984435,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0615,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.041,
"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": "ENST00000264257.7",
"gene_symbol": "IL1RL2",
"hgnc_id": 5999,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1649T>C",
"hgvs_p": "p.Leu550Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}