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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: 20-35647600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35647600&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": "CPNE1",
"hgnc_id": 2314,
"hgvs_c": "c.15+5928G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003915.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000272897",
"hgnc_id": null,
"hgvs_c": "n.*32+7602G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000541176.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "RNU6-759P",
"hgnc_id": 47722,
"hgvs_c": "n.-170G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000516740.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15498,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"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": 1952,
"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": "NM_152925.3",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397443.7",
"protein_coding": true,
"protein_id": "NP_690902.1",
"strand": false,
"transcript": "NM_152925.3",
"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": 1952,
"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": "ENST00000397443.7",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152925.3",
"protein_coding": true,
"protein_id": "ENSP00000380585.1",
"strand": false,
"transcript": "ENST00000397443.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 542,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": null,
"cds_end": null,
"cds_length": 1629,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000317677.9",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.15+5928G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317257.5",
"strand": false,
"transcript": "ENST00000317677.9",
"transcript_support_level": 1
},
{
"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": 2147,
"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": "ENST00000352393.8",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.-1+7602G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336945.4",
"strand": false,
"transcript": "ENST00000352393.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 532,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": null,
"cds_end": null,
"cds_length": 1600,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437340.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415597.1",
"strand": false,
"transcript": "ENST00000437340.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 872,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541176.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000272897",
"hgvs_c": "n.*32+7602G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000443983.2",
"strand": false,
"transcript": "ENST00000541176.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 542,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": null,
"cds_end": null,
"cds_length": 1629,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003915.6",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.15+5928G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003906.2",
"strand": false,
"transcript": "NM_003915.6",
"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": 1910,
"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": "NM_152926.3",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_690903.1",
"strand": false,
"transcript": "NM_152926.3",
"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": 2037,
"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_152927.3",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.-1+11330G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_690904.1",
"strand": false,
"transcript": "NM_152927.3",
"transcript_support_level": null
},
{
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"aa_length": 537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"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_152928.3",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.-1+11330G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_690905.1",
"strand": false,
"transcript": "NM_152928.3",
"transcript_support_level": 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": 2091,
"cdna_start": null,
"cds_end": null,
"cds_length": 1614,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000879751.1",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549810.1",
"strand": false,
"transcript": "ENST00000879751.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001198863.2",
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"gene_symbol": "CPNE1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001185792.1",
"strand": false,
"transcript": "NM_001198863.2",
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},
{
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000397442.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000380584.1",
"strand": false,
"transcript": "ENST00000397442.5",
"transcript_support_level": 5
},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000430570.5",
"gene_hgnc_id": 2314,
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"protein_coding": true,
"protein_id": "ENSP00000390626.1",
"strand": false,
"transcript": "ENST00000430570.5",
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},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000412056.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000416962.1",
"strand": false,
"transcript": "ENST00000412056.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1070,
"cdna_start": null,
"cds_end": null,
"cds_length": 913,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414664.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000404355.1",
"strand": false,
"transcript": "ENST00000414664.5",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000439806.6",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
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"protein_coding": true,
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"transcript": "ENST00000439806.6",
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},
{
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"consequences": [
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],
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"feature": "ENST00000416778.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.1-14677G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000389662.1",
"strand": false,
"transcript": "ENST00000416778.5",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 8,
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"feature": "ENST00000420363.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.-1+11330G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401915.1",
"strand": false,
"transcript": "ENST00000420363.5",
"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": 831,
"cdna_start": null,
"cds_end": null,
"cds_length": 605,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434795.5",
"gene_hgnc_id": 2314,
"gene_symbol": "CPNE1",
"hgvs_c": "c.-1+11330G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409794.1",
"strand": false,
"transcript": "ENST00000434795.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 746,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
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