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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: 2-233997882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233997882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233997882,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000324695.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.3130+1366C>T",
"hgvs_p": null,
"transcript": "NM_024080.5",
"protein_id": "NP_076985.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5646,
"mane_select": "ENST00000324695.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.3130+1366C>T",
"hgvs_p": null,
"transcript": "ENST00000324695.9",
"protein_id": "ENSP00000323926.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1104,
"cds_start": -4,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5646,
"mane_select": "NM_024080.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "n.*356+1366C>T",
"hgvs_p": null,
"transcript": "ENST00000439148.1",
"protein_id": "ENSP00000390609.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "n.*2079+1366C>T",
"hgvs_p": null,
"transcript": "ENST00000444298.5",
"protein_id": "ENSP00000396745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.2980+1366C>T",
"hgvs_p": null,
"transcript": "NM_001397607.1",
"protein_id": "NP_001384536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.3130+1366C>T",
"hgvs_p": null,
"transcript": "NM_001397608.1",
"protein_id": "NP_001384537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.2899+1366C>T",
"hgvs_p": null,
"transcript": "NM_001397609.1",
"protein_id": "NP_001384538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
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"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.2899+1366C>T",
"hgvs_p": null,
"transcript": "NM_001397610.1",
"protein_id": "NP_001384539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.2899+1366C>T",
"hgvs_p": null,
"transcript": "NM_001397611.1",
"protein_id": "NP_001384540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": -4,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
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"cdna_length": 5642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.2077+1366C>T",
"hgvs_p": null,
"transcript": "ENST00000433712.6",
"protein_id": "ENSP00000404423.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.1945+1366C>T",
"hgvs_p": null,
"transcript": "NM_001397614.1",
"protein_id": "NP_001384543.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 709,
"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
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"gene_symbol": "TRPM8",
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"transcript": "NM_001397615.1",
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},
{
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],
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"gene_symbol": "TRPM8",
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"hgvs_c": "c.1945+1366C>T",
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"transcript": "NM_001397619.1",
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},
{
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],
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"gene_symbol": "TRPM8",
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"hgvs_c": "c.913+1366C>T",
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"transcript": "ENST00000456930.1",
"protein_id": "ENSP00000414198.1",
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},
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],
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"transcript": "NM_001397617.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "TRPM8",
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},
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],
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"gene_symbol": "TRPM8",
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"hgvs_c": "c.730+1366C>T",
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"transcript": "NM_001397621.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "TRPM8",
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"hgvs_c": "c.730+1366C>T",
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"transcript": "NM_001397622.1",
"protein_id": "NP_001384551.1",
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},
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],
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"gene_symbol": "TRPM8",
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},
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"gene_symbol": "TRPM8",
"gene_hgnc_id": 17961,
"hgvs_c": "c.2899+1366C>T",
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"transcript": "XM_017004891.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRPM8",
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"hgvs_c": "c.1945+1366C>T",
"hgvs_p": null,
"transcript": "XM_024453133.2",
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{
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],
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"gnomad_genomes_ac": 119413,
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"gnomad_genomes_homalt": 47100,
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"computational_score_selected": -0.9700000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000324695.9",
"gene_symbol": "TRPM8",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}