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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
{
"variants": [
{
"chr": "1",
"pos": 161168463,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367999.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 477,
"cds_start": 503,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 477,
"cds_start": 503,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 477,
"cds_start": 503,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 477,
"cds_start": 503,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 477,
"cds_start": 503,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 444,
"cds_start": 404,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "NM_001365399.1",
"protein_id": "NP_001352328.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 440,
"cds_start": 503,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "ENST00000652182.1",
"protein_id": "ENSP00000498884.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 434,
"cds_start": 503,
"cds_end": null,
"cds_length": 1307,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "ENST00000652103.1",
"protein_id": "ENSP00000498501.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 378,
"cds_start": 206,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32His",
"transcript": "NM_001350129.2",
"protein_id": "NP_001337058.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 341,
"cds_start": 95,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32His",
"transcript": "NM_001365400.1",
"protein_id": "NP_001352329.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 341,
"cds_start": 95,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.17G>A",
"hgvs_p": "p.Arg6His",
"transcript": "NM_001350130.2",
"protein_id": "NP_001337059.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 315,
"cds_start": 17,
"cds_end": null,
"cds_length": 948,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.17G>A",
"hgvs_p": "p.Arg6His",
"transcript": "NM_001350131.2",
"protein_id": "NP_001337060.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 315,
"cds_start": 17,
"cds_end": null,
"cds_length": 948,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.17G>A",
"hgvs_p": "p.Arg6His",
"transcript": "NM_001365401.1",
"protein_id": "NP_001352330.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 315,
"cds_start": 17,
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"cdna_start": 581,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211His",
"transcript": "XM_011509663.3",
"protein_id": "XP_011507965.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 567,
"cds_start": 632,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Arg206His",
"transcript": "XM_011509664.2",
"protein_id": "XP_011507966.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
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"cds_start": 617,
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"cdna_start": 829,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211His",
"transcript": "XM_011509665.3",
"protein_id": "XP_011507967.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 536,
"cds_start": 632,
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"cds_length": 1611,
"cdna_start": 844,
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"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Arg206His",
"transcript": "XM_047423569.1",
"protein_id": "XP_047279525.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 531,
"cds_start": 617,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "XM_011509667.3",
"protein_id": "XP_011507969.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "XM_011509668.3",
"protein_id": "XP_011507970.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 518,
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"cdna_start": 628,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "XM_011509670.3",
"protein_id": "XP_011507972.1",
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"aa_start": 173,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "XM_047423581.1",
"protein_id": "XP_047279537.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 529,
"cds_start": 518,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"transcript": "XM_005245291.5",
"protein_id": "XP_005245348.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 524,
"cds_start": 503,
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],
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"dbsnp": "rs41270025",
"frequency_reference_population": 0.0000012391804,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": 0.00000657531,
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"computational_score_selected": 0.968117356300354,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.834,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4288,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.27,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
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"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367999.9",
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"effects": [
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],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His"
}
],
"clinvar_disease": "See cases,Variegate porphyria,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Variegate porphyria|not provided|See cases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}