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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: 2-102015954-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102015954&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IL1R2",
"hgnc_id": 5994,
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004633.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1423,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18702185153961182,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004633.4",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000332549.8",
"protein_coding": true,
"protein_id": "NP_004624.1",
"strand": true,
"transcript": "NM_004633.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000332549.8",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004633.4",
"protein_coding": true,
"protein_id": "ENSP00000330959.3",
"strand": true,
"transcript": "ENST00000332549.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393414.6",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377066.2",
"strand": true,
"transcript": "ENST00000393414.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 296,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1106,
"cdna_start": 477,
"cds_end": null,
"cds_length": 891,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000441002.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414611.1",
"strand": true,
"transcript": "ENST00000441002.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1398,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1278,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966319.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636378.1",
"strand": true,
"transcript": "ENST00000966319.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1278,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966320.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636379.1",
"strand": true,
"transcript": "ENST00000966320.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 425,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 516,
"cds_end": null,
"cds_length": 1278,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966321.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636380.1",
"strand": true,
"transcript": "ENST00000966321.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909823.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579882.1",
"strand": true,
"transcript": "ENST00000909823.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909824.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579883.1",
"strand": true,
"transcript": "ENST00000909824.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909827.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579886.1",
"strand": true,
"transcript": "ENST00000909827.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909828.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579887.1",
"strand": true,
"transcript": "ENST00000909828.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909829.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579888.1",
"strand": true,
"transcript": "ENST00000909829.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 298,
"cds_end": null,
"cds_length": 981,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909825.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579884.1",
"strand": true,
"transcript": "ENST00000909825.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1209,
"cdna_start": 406,
"cds_end": null,
"cds_length": 981,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909826.1",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579885.1",
"strand": true,
"transcript": "ENST00000909826.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 296,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 529,
"cds_end": null,
"cds_length": 891,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001261419.2",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248348.1",
"strand": true,
"transcript": "NM_001261419.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 228,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 792,
"cdna_start": 520,
"cds_end": null,
"cds_length": 688,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000457817.5",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408415.1",
"strand": true,
"transcript": "ENST00000457817.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 441,
"aa_ref": "P",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1326,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011511801.3",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Pro182Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510103.1",
"strand": true,
"transcript": "XM_011511801.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1272,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006712736.4",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.491C>A",
"hgvs_p": "p.Pro164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712799.1",
"strand": true,
"transcript": "XM_006712736.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006712734.4",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712797.1",
"strand": true,
"transcript": "XM_006712734.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 533,
"cds_end": null,
"cds_length": 1197,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011511804.4",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.416C>A",
"hgvs_p": "p.Pro139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510106.1",
"strand": true,
"transcript": "XM_011511804.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 378,
"aa_ref": "P",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1137,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011511805.4",
"gene_hgnc_id": 5994,
"gene_symbol": "IL1R2",
"hgvs_c": "c.356C>A",
"hgvs_p": "p.Pro119Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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