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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: 21-42719847-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42719847&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PDE9A",
"hgnc_id": 8795,
"hgvs_c": "c.263-11923A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002606.3",
"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": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 593,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": 1782,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002606.3",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.263-11923A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000291539.11",
"protein_coding": true,
"protein_id": "NP_002597.1",
"strand": true,
"transcript": "NM_002606.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 593,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": 1782,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000291539.11",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.263-11923A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002606.3",
"protein_coding": true,
"protein_id": "ENSP00000291539.6",
"strand": true,
"transcript": "ENST00000291539.11",
"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": 1956,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000328862.10",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.185-11923A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328699.6",
"strand": true,
"transcript": "ENST00000328862.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 552,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": null,
"cds_end": null,
"cds_length": 1659,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398225.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.140-11923A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381281.3",
"strand": true,
"transcript": "ENST00000398225.7",
"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": 1875,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380328.6",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.339-13509A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369685.2",
"strand": true,
"transcript": "ENST00000380328.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 533,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": null,
"cds_end": null,
"cds_length": 1602,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335512.8",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.263-12223A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335242.4",
"strand": true,
"transcript": "ENST00000335512.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 526,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": null,
"cds_end": null,
"cds_length": 1581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398232.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.62-11923A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381287.3",
"strand": true,
"transcript": "ENST00000398232.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 507,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": null,
"cds_end": null,
"cds_length": 1524,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398236.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.185-12223A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381291.3",
"strand": true,
"transcript": "ENST00000398236.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 492,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": null,
"cds_end": null,
"cds_length": 1479,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398234.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.140-12223A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381289.3",
"strand": true,
"transcript": "ENST00000398234.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 491,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": null,
"cds_end": null,
"cds_length": 1476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335440.10",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.192-13509A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335365.6",
"strand": true,
"transcript": "ENST00000335440.10",
"transcript_support_level": 1
},
{
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"aa_length": 466,
"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,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398224.3",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.62-12223A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381280.3",
"strand": true,
"transcript": "ENST00000398224.3",
"transcript_support_level": 1
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1398,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000349112.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.114-13509A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000344730.3",
"strand": true,
"transcript": "ENST00000349112.7",
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},
{
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],
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"feature": "ENST00000398229.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000381285.3",
"strand": true,
"transcript": "ENST00000398229.7",
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},
{
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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": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398227.7",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "c.18-13509A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000381283.3",
"strand": true,
"transcript": "ENST00000398227.7",
"transcript_support_level": 1
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000460989.5",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "n.106-13509A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460989.5",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462571.5",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "n.150-4709A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462571.5",
"transcript_support_level": 1
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467403.5",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "n.106-12223A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000467403.5",
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},
{
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],
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"feature": "ENST00000468805.5",
"gene_hgnc_id": 8795,
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"hgvs_c": "n.221-13509A>C",
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"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000470987.5",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "n.399-12223A>C",
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"mane_plus": null,
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"protein_id": null,
"strand": true,
"transcript": "ENST00000470987.5",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000490803.5",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "n.130-11923A>C",
"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": "ENST00000490803.5",
"transcript_support_level": 1
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000495521.5",
"gene_hgnc_id": 8795,
"gene_symbol": "PDE9A",
"hgvs_c": "n.150-13509A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495521.5",
"transcript_support_level": 1
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
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