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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: 20-63718234-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63718234&ref=A&alt=G&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": "ZGPAT",
"hgnc_id": 15948,
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_032527.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000273154",
"hgnc_id": null,
"hgvs_c": "n.299+9070A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000490623.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 113552,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181485.3",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355969.11",
"protein_coding": true,
"protein_id": "NP_852150.2",
"strand": true,
"transcript": "NM_181485.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355969.11",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181485.3",
"protein_coding": true,
"protein_id": "ENSP00000348242.6",
"strand": true,
"transcript": "ENST00000355969.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448100.6",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391176.1",
"strand": true,
"transcript": "ENST00000448100.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 502,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": null,
"cds_end": null,
"cds_length": 1509,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357119.8",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349634.4",
"strand": true,
"transcript": "ENST00000357119.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468235.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "n.76+9070A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000468235.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 540,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939520.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609579.1",
"strand": true,
"transcript": "ENST00000939520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032527.5",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115916.3",
"strand": true,
"transcript": "NM_032527.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000328969.5",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000332013.5",
"strand": true,
"transcript": "ENST00000328969.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000878102.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548161.1",
"strand": true,
"transcript": "ENST00000878102.1",
"transcript_support_level": null
},
{
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"aa_length": 531,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000964255.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634314.1",
"strand": true,
"transcript": "ENST00000964255.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000964256.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634315.1",
"strand": true,
"transcript": "ENST00000964256.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000878100.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548159.1",
"strand": true,
"transcript": "ENST00000878100.1",
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},
{
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],
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"feature": "ENST00000878103.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548162.1",
"strand": true,
"transcript": "ENST00000878103.1",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000878106.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
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"protein_coding": true,
"protein_id": "ENSP00000548165.1",
"strand": true,
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},
{
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],
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"feature": "ENST00000878104.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548163.1",
"strand": true,
"transcript": "ENST00000878104.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000878105.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548164.1",
"strand": true,
"transcript": "ENST00000878105.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "NM_001083113.2",
"gene_hgnc_id": 15948,
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"strand": true,
"transcript": "NM_001083113.2",
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},
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],
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"feature": "NM_001195653.2",
"gene_hgnc_id": 15948,
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"hgvs_c": "c.584+9070A>G",
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"protein_id": "NP_001182582.1",
"strand": true,
"transcript": "NM_001195653.2",
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},
{
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"consequences": [
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],
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"feature": "ENST00000369967.7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358984.3",
"strand": true,
"transcript": "ENST00000369967.7",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000878098.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548157.1",
"strand": true,
"transcript": "ENST00000878098.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"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": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878107.1",
"gene_hgnc_id": 15948,
"gene_symbol": "ZGPAT",
"hgvs_c": "c.584+9070A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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