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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: 1-161168463-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161168463&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"inheritance_mode": "AD,SD,AR",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_000309.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.4288,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "See cases,Variegate porphyria,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.968117356300354,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001122764.3",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367999.9",
"protein_coding": true,
"protein_id": "NP_001116236.1",
"strand": true,
"transcript": "NM_001122764.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367999.9",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001122764.3",
"protein_coding": true,
"protein_id": "ENSP00000356978.4",
"strand": true,
"transcript": "ENST00000367999.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000352210.9",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343943.5",
"strand": true,
"transcript": "ENST00000352210.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1635,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881040.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551099.1",
"strand": true,
"transcript": "ENST00000881040.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1437,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881038.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551097.1",
"strand": true,
"transcript": "ENST00000881038.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1437,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881039.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551098.1",
"strand": true,
"transcript": "ENST00000881039.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000309.5",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000300.1",
"strand": true,
"transcript": "NM_000309.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001365398.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352327.1",
"strand": true,
"transcript": "NM_001365398.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881045.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551104.1",
"strand": true,
"transcript": "ENST00000881045.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881046.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551105.1",
"strand": true,
"transcript": "ENST00000881046.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 477,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1434,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971241.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641300.1",
"strand": true,
"transcript": "ENST00000971241.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 471,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1416,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971244.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641303.1",
"strand": true,
"transcript": "ENST00000971244.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 695,
"cds_end": null,
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"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
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"feature": "ENST00000971249.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641308.1",
"strand": true,
"transcript": "ENST00000971249.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 457,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1374,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923443.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593502.1",
"strand": true,
"transcript": "ENST00000923443.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 655,
"cds_end": null,
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"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881043.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551102.1",
"strand": true,
"transcript": "ENST00000881043.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 450,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1353,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971245.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641304.1",
"strand": true,
"transcript": "ENST00000971245.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 444,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 659,
"cds_end": null,
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"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350128.2",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001337057.1",
"strand": true,
"transcript": "NM_001350128.2",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923441.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000593500.1",
"strand": true,
"transcript": "ENST00000923441.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 758,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
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"feature": "NM_001365399.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352328.1",
"strand": true,
"transcript": "NM_001365399.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 439,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1320,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881036.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551095.1",
"strand": true,
"transcript": "ENST00000881036.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 439,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 513,
"cds_end": null,
"cds_length": 1320,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881044.1",
"gene_hgnc_id": 9280,
"gene_symbol": "PPOX",
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"intron_rank": null,
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}
],
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Variegate porphyria|not provided|See cases",
"phylop100way_prediction": "Pathogenic",
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}
]
}