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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: 3-9928436-CCC-TTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9928436&ref=CCC&alt=TTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IL17RC",
"hgnc_id": 18358,
"hgvs_c": "c.1222_1224delCCCinsTTG",
"hgvs_p": "p.Pro408Leu",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_153461.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"hgvs_c": "n.925_927delCCCinsTTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000683484.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTG",
"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": "L",
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153460.4",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1009_1011delCCCinsTTG",
"hgvs_p": "p.Pro337Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403601.8",
"protein_coding": true,
"protein_id": "NP_703190.2",
"strand": true,
"transcript": "NM_153460.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000403601.8",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1009_1011delCCCinsTTG",
"hgvs_p": "p.Pro337Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153460.4",
"protein_coding": true,
"protein_id": "ENSP00000384969.3",
"strand": true,
"transcript": "ENST00000403601.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413608.2",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1009_1011delCCCinsTTG",
"hgvs_p": "p.Pro337Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396064.1",
"strand": true,
"transcript": "ENST00000413608.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 705,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 2118,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000383812.9",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.964_966delCCCinsTTG",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373323.4",
"strand": true,
"transcript": "ENST00000383812.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 690,
"aa_ref": "P",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416074.6",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1009_1011delCCCinsTTG",
"hgvs_p": "p.Pro337Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395315.3",
"strand": true,
"transcript": "ENST00000416074.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 688,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 2067,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455057.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.964_966delCCCinsTTG",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407894.1",
"strand": true,
"transcript": "ENST00000455057.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 538,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1617,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483582.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.964_966delCCCinsTTG",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512844.1",
"strand": true,
"transcript": "ENST00000483582.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1408,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436503.6",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.934_936delCCCinsTTG",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401128.2",
"strand": true,
"transcript": "ENST00000436503.6",
"transcript_support_level": 1
},
{
"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": 2284,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000451271.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "n.*792_*794delCCCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412777.1",
"strand": true,
"transcript": "ENST00000451271.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000469686.6",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "n.1581_1583delCCCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469686.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683484.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288550",
"hgvs_c": "n.925_927delCCCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507040.1",
"strand": true,
"transcript": "ENST00000683484.1",
"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": 2284,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000451271.5",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "n.*792_*794delCCCinsTTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412777.1",
"strand": true,
"transcript": "ENST00000451271.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 791,
"aa_ref": "P",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153461.4",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1222_1224delCCCinsTTG",
"hgvs_p": "p.Pro408Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_703191.2",
"strand": true,
"transcript": "NM_153461.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 791,
"aa_ref": "P",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295981.7",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1222_1224delCCCinsTTG",
"hgvs_p": "p.Pro408Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295981.3",
"strand": true,
"transcript": "ENST00000295981.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 776,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869960.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1177_1179delCCCinsTTG",
"hgvs_p": "p.Pro393Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540019.1",
"strand": true,
"transcript": "ENST00000869960.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 764,
"aa_ref": "P",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869962.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1141_1143delCCCinsTTG",
"hgvs_p": "p.Pro381Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540021.1",
"strand": true,
"transcript": "ENST00000869962.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869980.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1102_1104delCCCinsTTG",
"hgvs_p": "p.Pro368Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540039.1",
"strand": true,
"transcript": "ENST00000869980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870007.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1141_1143delCCCinsTTG",
"hgvs_p": "p.Pro381Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540066.1",
"strand": true,
"transcript": "ENST00000870007.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869959.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1138_1140delCCCinsTTG",
"hgvs_p": "p.Pro380Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540018.1",
"strand": true,
"transcript": "ENST00000869959.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 744,
"aa_ref": "P",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870010.1",
"gene_hgnc_id": 18358,
"gene_symbol": "IL17RC",
"hgvs_c": "c.1141_1143delCCCinsTTG",
"hgvs_p": "p.Pro381Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540069.1",
"strand": true,
"transcript": "ENST00000870010.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 728,
"aa_ref": "P",
"aa_start": 345,
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