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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: 5-75356383-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75356383&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HMGCR",
"hgnc_id": 5006,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"inheritance_mode": "AR",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000859.3",
"verdict": "Pathogenic"
},
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CERT1",
"hgnc_id": 2205,
"hgvs_c": "c.*544G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 6,
"transcript": "ENST00000644912.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 13,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.4303,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "5",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8771722316741943,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_000859.3",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000287936.9",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 835,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000343975.9",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1762C>T",
"hgvs_p": "p.Arg588Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4507,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001364187.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000511206.5",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6621,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000680940.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6777,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000681271.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000681410.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000863955.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000863957.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": 2352,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000863961.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534020.1",
"strand": true,
"transcript": "ENST00000863961.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000863963.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5323,
"cdna_start": 3192,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000863965.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534024.1",
"strand": true,
"transcript": "ENST00000863965.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000863966.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 888,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969680.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 874,
"aa_ref": "R",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 2625,
"cds_start": 1879,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000969679.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Arg627Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639738.1",
"strand": true,
"transcript": "ENST00000969679.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 873,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000680160.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": 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
},
{
"aa_alt": "C",
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"aa_length": 873,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000919690.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"intron_rank_end": null,
"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_length": 871,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000863960.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"intron_rank": null,
"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
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 866,
"aa_ref": "R",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000919692.1",
"gene_hgnc_id": 5006,
"gene_symbol": "HMGCR",
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Arg619Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589751.1",
"strand": true,
"transcript": "ENST00000919692.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
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