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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: 11-85957120-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85957120&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "PICALM",
"hgnc_id": 15514,
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_007166.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 652,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": null,
"cds_end": null,
"cds_length": 1959,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007166.4",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393346.8",
"protein_coding": true,
"protein_id": "NP_009097.2",
"strand": true,
"transcript": "NM_007166.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 652,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": null,
"cds_end": null,
"cds_length": 1959,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393346.8",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007166.4",
"protein_coding": true,
"protein_id": "ENSP00000377015.3",
"strand": true,
"transcript": "ENST00000393346.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4511,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890386.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560445.1",
"strand": true,
"transcript": "ENST00000890386.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 655,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": null,
"cds_end": null,
"cds_length": 1968,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890388.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560447.1",
"strand": true,
"transcript": "ENST00000890388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890390.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560449.1",
"strand": true,
"transcript": "ENST00000890390.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1938,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001206946.2",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193875.1",
"strand": true,
"transcript": "NM_001206946.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 632,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": null,
"cds_end": null,
"cds_length": 1899,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411034.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397963.1",
"strand": true,
"transcript": "NM_001411034.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 610,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": null,
"cds_end": null,
"cds_length": 1833,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001008660.3",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008660.1",
"strand": true,
"transcript": "NM_001008660.3",
"transcript_support_level": null
},
{
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"aa_length": 597,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": null,
"cds_end": null,
"cds_length": 1794,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890387.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560446.1",
"strand": true,
"transcript": "ENST00000890387.1",
"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": 3949,
"cdna_start": null,
"cds_end": null,
"cds_length": 1791,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890393.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560452.1",
"strand": true,
"transcript": "ENST00000890393.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890391.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000560450.1",
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"transcript": "ENST00000890391.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
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"feature": "ENST00000890389.1",
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"protein_coding": true,
"protein_id": "ENSP00000560448.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001206947.2",
"gene_hgnc_id": 15514,
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"protein_id": "NP_001193876.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000890392.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000560451.1",
"strand": true,
"transcript": "ENST00000890392.1",
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},
{
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"consequences": [
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],
"exon_count": 22,
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"feature": "XM_005274322.4",
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"protein_id": "XP_005274379.1",
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"transcript": "XM_005274322.4",
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},
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"consequences": [
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],
"exon_count": 21,
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"feature": "XM_005274326.4",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
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"protein_coding": true,
"protein_id": "XP_005274383.1",
"strand": true,
"transcript": "XM_005274326.4",
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},
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"cdna_start": null,
"cds_end": null,
"cds_length": 1968,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
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"feature": "XM_005274328.4",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
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},
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"consequences": [
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],
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"feature": "XM_024448700.2",
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},
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],
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"feature": "XM_017018381.3",
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},
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"consequences": [
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],
"exon_count": 20,
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"feature": "XM_005274329.5",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
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"protein_coding": true,
"protein_id": "XP_005274386.1",
"strand": true,
"transcript": "XM_005274329.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4098,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "XM_047427659.1",
"gene_hgnc_id": 15514,
"gene_symbol": "PICALM",
"hgvs_c": "c.*1926C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047283615.1",
"strand": true,
"transcript": "XM_047427659.1",
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},
{
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