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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: 3-12434111-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12434111&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPARG",
"hgnc_id": 9236,
"hgvs_c": "c.1484C>A",
"hgvs_p": "p.Pro495Gln",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_015869.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9916,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9051206111907959,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_138711.6",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651735.1",
"protein_coding": true,
"protein_id": "NP_619725.3",
"strand": true,
"transcript": "NM_138711.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000651735.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138711.6",
"protein_coding": true,
"protein_id": "ENSP00000498313.1",
"strand": true,
"transcript": "ENST00000651735.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 505,
"aa_ref": "P",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000287820.10",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1484C>A",
"hgvs_p": "p.Pro495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000287820.6",
"strand": true,
"transcript": "ENST00000287820.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397010.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380205.3",
"strand": true,
"transcript": "ENST00000397010.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397015.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380210.3",
"strand": true,
"transcript": "ENST00000397015.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1122,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397000.6",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.*196C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380196.2",
"strand": true,
"transcript": "ENST00000397000.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 505,
"aa_ref": "P",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015869.5",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1484C>A",
"hgvs_p": "p.Pro495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056953.2",
"strand": true,
"transcript": "NM_015869.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 493,
"aa_ref": "P",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942278.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1448C>A",
"hgvs_p": "p.Pro483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612337.1",
"strand": true,
"transcript": "ENST00000942278.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354666.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341595.2",
"strand": true,
"transcript": "NM_001354666.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354667.3",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341596.2",
"strand": true,
"transcript": "NM_001354667.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374263.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361192.2",
"strand": true,
"transcript": "NM_001374263.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374264.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361193.2",
"strand": true,
"transcript": "NM_001374264.2",
"transcript_support_level": null
},
{
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"aa_length": 475,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005037.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005028.5",
"strand": true,
"transcript": "NM_005037.7",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_138712.5",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_619726.3",
"strand": true,
"transcript": "NM_138712.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000309576.11",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312472.7",
"strand": true,
"transcript": "ENST00000309576.11",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397026.7",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380221.3",
"strand": true,
"transcript": "ENST00000397026.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643197.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495840.2",
"strand": true,
"transcript": "ENST00000643197.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000643888.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494934.2",
"strand": true,
"transcript": "ENST00000643888.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 1911,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644622.2",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494873.2",
"strand": true,
"transcript": "ENST00000644622.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000681982.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508065.1",
"strand": true,
"transcript": "ENST00000681982.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 3831,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682446.1",
"gene_hgnc_id": 9236,
"gene_symbol": "PPARG",
"hgvs_c": "c.1394C>A",
"hgvs_p": "p.Pro465Gln",
"intron_rank": null,
"intron_rank_end": null,
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