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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: 8-86542742-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86542742&ref=G&alt=A&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": "CPNE3",
"hgnc_id": 2316,
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003909.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 23374,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003909.5",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000517490.6",
"protein_coding": true,
"protein_id": "NP_003900.1",
"strand": true,
"transcript": "NM_003909.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517490.6",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003909.5",
"protein_coding": true,
"protein_id": "ENSP00000477590.1",
"strand": true,
"transcript": "ENST00000517490.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937951.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.724-1998G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608010.1",
"strand": true,
"transcript": "ENST00000937951.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5766,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877724.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547783.1",
"strand": true,
"transcript": "ENST00000877724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877725.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547784.1",
"strand": true,
"transcript": "ENST00000877725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877727.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547786.1",
"strand": true,
"transcript": "ENST00000877727.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877728.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547787.1",
"strand": true,
"transcript": "ENST00000877728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000877730.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547789.1",
"strand": true,
"transcript": "ENST00000877730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5311,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937950.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608009.1",
"strand": true,
"transcript": "ENST00000937950.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 537,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970509.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640568.1",
"strand": true,
"transcript": "ENST00000970509.1",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000970510.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640569.1",
"strand": true,
"transcript": "ENST00000970510.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2984,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000970511.1",
"gene_hgnc_id": 2316,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640570.1",
"strand": true,
"transcript": "ENST00000970511.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000970512.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000970512.1",
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},
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000970513.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640572.1",
"strand": true,
"transcript": "ENST00000970513.1",
"transcript_support_level": null
},
{
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000970514.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640573.1",
"strand": true,
"transcript": "ENST00000970514.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000877726.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-2055G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547785.1",
"strand": true,
"transcript": "ENST00000877726.1",
"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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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000877729.1",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000547788.1",
"strand": true,
"transcript": "ENST00000877729.1",
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},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000877723.1",
"gene_hgnc_id": 2316,
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"protein_coding": true,
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},
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"consequences": [
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],
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"feature": "ENST00000970508.1",
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"protein_coding": true,
"protein_id": "ENSP00000640567.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000517391.5",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.298-1998G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000428561.1",
"strand": true,
"transcript": "ENST00000517391.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 702,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621783.4",
"gene_hgnc_id": 2316,
"gene_symbol": "CPNE3",
"hgvs_c": "c.634-1998G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482002.1",
"strand": true,
"transcript": "ENST00000621783.4",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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