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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: 3-9903041-CGC-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9903041&ref=CGC&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IL17RE",
"hgnc_id": 18439,
"hgvs_c": "c.229_231delCGCinsGGA",
"hgvs_p": "p.Arg77Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_153483.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 194,
"cds_end": null,
"cds_length": 2004,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153480.2",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000383814.8",
"protein_coding": true,
"protein_id": "NP_705613.1",
"strand": true,
"transcript": "NM_153480.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 194,
"cds_end": null,
"cds_length": 2004,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000383814.8",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153480.2",
"protein_coding": true,
"protein_id": "ENSP00000373325.3",
"strand": true,
"transcript": "ENST00000383814.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 700,
"aa_ref": "R",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 226,
"cds_end": null,
"cds_length": 2103,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421412.5",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.208_210delCGCinsGGA",
"hgvs_p": "p.Arg70Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404916.1",
"strand": true,
"transcript": "ENST00000421412.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 707,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 233,
"cds_end": null,
"cds_length": 2124,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153483.2",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.229_231delCGCinsGGA",
"hgvs_p": "p.Arg77Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_705616.2",
"strand": true,
"transcript": "NM_153483.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 192,
"cds_end": null,
"cds_length": 1770,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865435.1",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535494.1",
"strand": true,
"transcript": "ENST00000865435.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 194,
"cds_end": null,
"cds_length": 1602,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193380.2",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180309.1",
"strand": true,
"transcript": "NM_001193380.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2757,
"cdna_start": 194,
"cds_end": null,
"cds_length": 1602,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454190.6",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388086.2",
"strand": true,
"transcript": "ENST00000454190.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 172,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": 160,
"cds_end": null,
"cds_length": 520,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454992.1",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400768.1",
"strand": true,
"transcript": "ENST00000454992.1",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 242,
"cds_end": null,
"cds_length": 2004,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447458.1",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303414.1",
"strand": true,
"transcript": "XM_047447458.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 233,
"cds_end": null,
"cds_length": 2004,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447459.1",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.229_231delCGCinsGGA",
"hgvs_p": "p.Arg77Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303415.1",
"strand": true,
"transcript": "XM_047447459.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 243,
"cds_end": null,
"cds_length": 1884,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533361.4",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531663.2",
"strand": true,
"transcript": "XM_011533361.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 233,
"cds_end": null,
"cds_length": 1602,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447460.1",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303416.1",
"strand": true,
"transcript": "XM_047447460.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1521,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024453350.2",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309118.1",
"strand": true,
"transcript": "XM_024453350.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 232,
"cds_end": null,
"cds_length": 1374,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533362.3",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531664.1",
"strand": true,
"transcript": "XM_011533362.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1293,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447462.1",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303418.1",
"strand": true,
"transcript": "XM_047447462.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 172,
"cds_end": null,
"cds_length": 1233,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533363.3",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531665.1",
"strand": true,
"transcript": "XM_011533363.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1146,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533364.3",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.109_111delCGCinsGGA",
"hgvs_p": "p.Arg37Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531666.1",
"strand": true,
"transcript": "XM_011533364.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_153481.2",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.-104_-102delCGCinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_705614.1",
"strand": true,
"transcript": "NM_153481.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006712976.2",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "c.-224_-222delCGCinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713039.1",
"strand": true,
"transcript": "XM_006712976.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000383815.7",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "n.109_111delCGCinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000373326.3",
"strand": true,
"transcript": "ENST00000383815.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000434065.5",
"gene_hgnc_id": 18439,
"gene_symbol": "IL17RE",
"hgvs_c": "n.109_111delCGCinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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