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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: 5-75359626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75359626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "HMGCR",
"hgnc_id": 5006,
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_000859.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CERT1",
"hgnc_id": 2205,
"hgvs_c": "c.*10-2614G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000863484.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 76905,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "5",
"clinvar_classification": "drug response",
"clinvar_disease": " attenuated cholesterol lowering by,Statins",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000859.3",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287936.9",
"protein_coding": true,
"protein_id": "NP_000850.1",
"strand": true,
"transcript": "NM_000859.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000287936.9",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000859.3",
"protein_coding": true,
"protein_id": "ENSP00000287936.4",
"strand": true,
"transcript": "ENST00000287936.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 835,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": null,
"cds_end": null,
"cds_length": 2508,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343975.9",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2298+70C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340816.5",
"strand": true,
"transcript": "ENST00000343975.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 637,
"cdna_start": null,
"cds_end": null,
"cds_length": 495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509085.5",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.285+316C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421378.1",
"strand": true,
"transcript": "ENST00000509085.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001364187.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351116.1",
"strand": true,
"transcript": "NM_001364187.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511206.5",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426745.1",
"strand": true,
"transcript": "ENST00000511206.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6621,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680940.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505561.1",
"strand": true,
"transcript": "ENST00000680940.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6777,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681271.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505805.1",
"strand": true,
"transcript": "ENST00000681271.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681410.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506232.1",
"strand": true,
"transcript": "ENST00000681410.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863955.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534014.1",
"strand": true,
"transcript": "ENST00000863955.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863957.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534016.1",
"strand": true,
"transcript": "ENST00000863957.1",
"transcript_support_level": null
},
{
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"aa_length": 888,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863961.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534020.1",
"strand": true,
"transcript": "ENST00000863961.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000863963.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534022.1",
"strand": true,
"transcript": "ENST00000863963.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5323,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863965.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534024.1",
"strand": true,
"transcript": "ENST00000863965.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863966.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534025.1",
"strand": true,
"transcript": "ENST00000863966.1",
"transcript_support_level": null
},
{
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"aa_length": 888,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969680.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2457+70C>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639739.1",
"strand": true,
"transcript": "ENST00000969680.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000969679.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2415+70C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639738.1",
"strand": true,
"transcript": "ENST00000969679.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000680160.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2412+115C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505315.1",
"strand": true,
"transcript": "ENST00000680160.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000919690.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2412+115C>T",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589749.1",
"strand": true,
"transcript": "ENST00000919690.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": null,
"cds_end": null,
"cds_length": 2616,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863960.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.2406+70C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534019.1",
"strand": true,
"transcript": "ENST00000863960.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919692.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
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