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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: 1-161166882-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161166882&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161166882,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367999.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 477,
"cds_start": 35,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 477,
"cds_start": 35,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 477,
"cds_start": 35,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 477,
"cds_start": 35,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 477,
"cds_start": 35,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 444,
"cds_start": 35,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "NM_001365399.1",
"protein_id": "NP_001352328.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 440,
"cds_start": 35,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000652182.1",
"protein_id": "ENSP00000498884.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 434,
"cds_start": 35,
"cds_end": null,
"cds_length": 1307,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000497522.5",
"protein_id": "ENSP00000491230.1",
"transcript_support_level": 4,
"aa_start": 12,
"aa_end": null,
"aa_length": 187,
"cds_start": 35,
"cds_end": null,
"cds_length": 565,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000544598.5",
"protein_id": "ENSP00000444216.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 185,
"cds_start": 35,
"cds_end": null,
"cds_length": 558,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000535223.5",
"protein_id": "ENSP00000443769.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 156,
"cds_start": 35,
"cds_end": null,
"cds_length": 471,
"cdna_start": 218,
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"cdna_length": 664,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "PPOX",
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"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000652729.1",
"protein_id": "ENSP00000498609.1",
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"aa_start": 12,
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"cds_start": 35,
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"cdna_start": 161,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "ENST00000462866.5",
"protein_id": "ENSP00000491797.1",
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"aa_start": 12,
"aa_end": null,
"aa_length": 140,
"cds_start": 35,
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"cds_length": 423,
"cdna_start": 43,
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"mane_select": null,
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},
{
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"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "XM_011509663.3",
"protein_id": "XP_011507965.1",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "XM_011509664.2",
"protein_id": "XP_011507966.1",
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"aa_start": 50,
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"aa_length": 562,
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"cdna_start": 361,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 2,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "XM_011509665.3",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "XM_047423569.1",
"protein_id": "XP_047279525.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "XM_011509667.3",
"protein_id": "XP_011507969.1",
"transcript_support_level": null,
"aa_start": 12,
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"cds_start": 35,
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"cdna_start": 290,
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"mane_select": null,
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},
{
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"strand": true,
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "PPOX",
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"transcript": "XM_011509668.3",
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},
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],
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"gene_symbol": "PPOX",
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"hgvs_c": "c.149T>C",
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"transcript": "XM_011509670.3",
"protein_id": "XP_011507972.1",
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},
{
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],
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"gene_symbol": "PPOX",
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"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr",
"transcript": "XM_005245291.5",
"protein_id": "XP_005245348.2",
"transcript_support_level": null,
"aa_start": 12,
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"cds_start": 35,
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"cdna_start": 290,
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"cdna_length": 2280,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "XM_011509671.2",
"protein_id": "XP_011507973.1",
"transcript_support_level": null,
"aa_start": 50,
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"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000367999.9",
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Ile12Thr"
}
],
"clinvar_disease": " childhood-onset,Variegate porphyria",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Variegate porphyria|Variegate porphyria, childhood-onset",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}