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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: 5-149820479-TT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149820479&ref=TT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PPARGC1B",
"hgnc_id": 30022,
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_133263.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10569,
"cdna_start": 158,
"cds_end": null,
"cds_length": 3072,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133263.4",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309241.10",
"protein_coding": true,
"protein_id": "NP_573570.3",
"strand": true,
"transcript": "NM_133263.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10569,
"cdna_start": 158,
"cds_end": null,
"cds_length": 3072,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000309241.10",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133263.4",
"protein_coding": true,
"protein_id": "ENSP00000312649.5",
"strand": true,
"transcript": "ENST00000309241.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4803,
"cdna_start": 167,
"cds_end": null,
"cds_length": 3054,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394320.7",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377855.3",
"strand": true,
"transcript": "ENST00000394320.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 984,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 170,
"cds_end": null,
"cds_length": 2955,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360453.8",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353638.4",
"strand": true,
"transcript": "ENST00000360453.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 474,
"cds_end": null,
"cds_length": 3126,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884559.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554618.1",
"strand": true,
"transcript": "ENST00000884559.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 173,
"cds_end": null,
"cds_length": 3066,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941533.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611592.1",
"strand": true,
"transcript": "ENST00000941533.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 158,
"cds_end": null,
"cds_length": 3060,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884565.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554624.1",
"strand": true,
"transcript": "ENST00000884565.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 158,
"cds_end": null,
"cds_length": 3012,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884561.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554620.1",
"strand": true,
"transcript": "ENST00000884561.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 158,
"cds_end": null,
"cds_length": 3009,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884564.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554623.1",
"strand": true,
"transcript": "ENST00000884564.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 984,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10452,
"cdna_start": 158,
"cds_end": null,
"cds_length": 2955,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001172698.2",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166169.1",
"strand": true,
"transcript": "NM_001172698.2",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 158,
"cds_end": null,
"cds_length": 2895,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884566.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554625.1",
"strand": true,
"transcript": "ENST00000884566.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10541,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2880,
"cds_start": 50,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001172699.2",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.50_51delTTinsGC",
"hgvs_p": "p.Leu17Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166170.1",
"strand": true,
"transcript": "NM_001172699.2",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": 247,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000403750.5",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.50_51delTTinsGC",
"hgvs_p": "p.Leu17Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384403.1",
"strand": true,
"transcript": "ENST00000403750.5",
"transcript_support_level": 2
},
{
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"aa_end": null,
"aa_length": 958,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 158,
"cds_end": null,
"cds_length": 2877,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884563.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554622.1",
"strand": true,
"transcript": "ENST00000884563.1",
"transcript_support_level": null
},
{
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"cdna_length": 2953,
"cdna_start": 158,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000884562.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554621.1",
"strand": true,
"transcript": "ENST00000884562.1",
"transcript_support_level": null
},
{
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"aa_length": 705,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 158,
"cds_end": null,
"cds_length": 2118,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884560.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554619.1",
"strand": true,
"transcript": "ENST00000884560.1",
"transcript_support_level": null
},
{
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"aa_length": 666,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 402,
"cds_end": null,
"cds_length": 2001,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000941532.1",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611591.1",
"strand": true,
"transcript": "ENST00000941532.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537553.3",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535855.1",
"strand": true,
"transcript": "XM_011537553.3",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 414,
"cds_end": null,
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"cds_start": 62,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537554.3",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.62_63delTTinsGC",
"hgvs_p": "p.Leu21Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535856.1",
"strand": true,
"transcript": "XM_011537554.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1025,
"aa_ref": "L",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 158,
"cds_end": null,
"cds_length": 3078,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537555.3",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
"hgvs_c": "c.125_126delTTinsGC",
"hgvs_p": "p.Leu42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535857.1",
"strand": true,
"transcript": "XM_011537555.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "L",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10821,
"cdna_start": 410,
"cds_end": null,
"cds_length": 3009,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005268372.4",
"gene_hgnc_id": 30022,
"gene_symbol": "PPARGC1B",
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