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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: 15-81312047-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=81312047&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "IL16",
"hgnc_id": 5980,
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001352686.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "STARD5",
"hgnc_id": 18065,
"hgvs_c": "c.*1209A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_181900.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9634,
"cdna_start": null,
"cds_end": null,
"cds_length": 3999,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_172217.5",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683961.1",
"protein_coding": true,
"protein_id": "NP_757366.2",
"strand": true,
"transcript": "NM_172217.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9634,
"cdna_start": null,
"cds_end": null,
"cds_length": 3999,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000683961.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172217.5",
"protein_coding": true,
"protein_id": "ENSP00000508085.1",
"strand": true,
"transcript": "ENST00000683961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 213,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4887,
"cdna_start": null,
"cds_end": null,
"cds_length": 642,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_181900.3",
"gene_hgnc_id": 18065,
"gene_symbol": "STARD5",
"hgvs_c": "c.*1209A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302824.7",
"protein_coding": true,
"protein_id": "NP_871629.1",
"strand": false,
"transcript": "NM_181900.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 213,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4887,
"cdna_start": null,
"cds_end": null,
"cds_length": 642,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000302824.7",
"gene_hgnc_id": 18065,
"gene_symbol": "STARD5",
"hgvs_c": "c.*1209A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181900.3",
"protein_coding": true,
"protein_id": "ENSP00000304032.6",
"strand": false,
"transcript": "ENST00000302824.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9542,
"cdna_start": null,
"cds_end": null,
"cds_length": 4137,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000302987.10",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000302935.5",
"strand": true,
"transcript": "ENST00000302987.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9744,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001352686.2",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339615.1",
"strand": true,
"transcript": "NM_001352686.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1379,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": null,
"cds_end": null,
"cds_length": 4140,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001438661.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425590.1",
"strand": true,
"transcript": "NM_001438661.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9535,
"cdna_start": null,
"cds_end": null,
"cds_length": 3999,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909975.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580034.1",
"strand": true,
"transcript": "ENST00000909975.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1331,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9616,
"cdna_start": null,
"cds_end": null,
"cds_length": 3996,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001172128.2",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165599.1",
"strand": true,
"transcript": "NM_001172128.2",
"transcript_support_level": null
},
{
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"aa_length": 1331,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9616,
"cdna_start": null,
"cds_end": null,
"cds_length": 3996,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000394660.6",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378155.2",
"strand": true,
"transcript": "ENST00000394660.6",
"transcript_support_level": 2
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9744,
"cdna_start": null,
"cds_end": null,
"cds_length": 3996,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
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"exon_rank_end": null,
"feature": "ENST00000706926.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000516648.1",
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"transcript": "ENST00000706926.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3744,
"cds_start": null,
"consequences": [
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],
"exon_count": 17,
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"exon_rank_end": null,
"feature": "ENST00000909976.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580035.1",
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"transcript": "ENST00000909976.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001352685.2",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339614.1",
"strand": true,
"transcript": "NM_001352685.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001352684.2",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
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"protein_coding": true,
"protein_id": "NP_001339613.1",
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"transcript": "NM_001352684.2",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004513.6",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004504.3",
"strand": true,
"transcript": "NM_004513.6",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 4191,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047432447.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288403.1",
"strand": true,
"transcript": "XM_047432447.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "XM_047432448.1",
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"hgvs_c": "c.*3249T>G",
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"strand": true,
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},
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"consequences": [
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],
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"exon_rank_end": null,
"feature": "XM_047432450.1",
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"hgvs_c": "c.*3249T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288406.1",
"strand": true,
"transcript": "XM_047432450.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "XM_047432453.1",
"gene_hgnc_id": 5980,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288409.1",
"strand": true,
"transcript": "XM_047432453.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 8804,
"cdna_start": null,
"cds_end": null,
"cds_length": 3489,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047432454.1",
"gene_hgnc_id": 5980,
"gene_symbol": "IL16",
"hgvs_c": "c.*3249T>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288410.1",
"strand": true,
"transcript": "XM_047432454.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7860,
"cdna_start": null,
"cds_end": null,
"cds_length": 2169,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047432456.1",
"gene_hgnc_id": 5980,
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