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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: 3-12392615-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12392615&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12392615,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000651735.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_138711.6",
"protein_id": "NP_619725.3",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "ENST00000651735.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000651735.1",
"protein_id": "ENSP00000498313.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "NM_138711.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.482G>T",
"hgvs_p": "p.Gly161Val",
"transcript": "ENST00000287820.10",
"protein_id": "ENSP00000287820.6",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 505,
"cds_start": 482,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000397010.7",
"protein_id": "ENSP00000380205.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000397015.7",
"protein_id": "ENSP00000380210.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000397000.6",
"protein_id": "ENSP00000380196.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.392G>T",
"hgvs_p": null,
"transcript": "ENST00000396999.3",
"protein_id": "ENSP00000380195.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.603G>T",
"hgvs_p": null,
"transcript": "ENST00000477039.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "n.498G>T",
"hgvs_p": null,
"transcript": "ENST00000497594.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.482G>T",
"hgvs_p": "p.Gly161Val",
"transcript": "NM_015869.5",
"protein_id": "NP_056953.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 505,
"cds_start": 482,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_001354666.3",
"protein_id": "NP_001341595.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_001354667.3",
"protein_id": "NP_001341596.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_001374263.2",
"protein_id": "NP_001361192.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_001374264.2",
"protein_id": "NP_001361193.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_005037.7",
"protein_id": "NP_005028.5",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "NM_138712.5",
"protein_id": "NP_619726.3",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000309576.11",
"protein_id": "ENSP00000312472.7",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000397026.7",
"protein_id": "ENSP00000380221.3",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000643197.2",
"protein_id": "ENSP00000495840.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000643888.2",
"protein_id": "ENSP00000494934.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000644622.2",
"protein_id": "ENSP00000494873.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val",
"transcript": "ENST00000681982.1",
"protein_id": "ENSP00000508065.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 475,
"cds_start": 392,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8180000185966492,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.949,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.992,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.965082669243006,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651735.1",
"gene_symbol": "PPARG",
"hgnc_id": 9236,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Gly131Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}