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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: 1-161170467-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161170467&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161170467,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367999.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Asp349Ala",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 477,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Asp349Ala",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 477,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Asp349Ala",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 477,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Asp349Ala",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 477,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Asp349Ala",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 477,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.947A>C",
"hgvs_p": "p.Asp316Ala",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 444,
"cds_start": 947,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.749A>C",
"hgvs_p": "p.Asp250Ala",
"transcript": "ENST00000652103.1",
"protein_id": "ENSP00000498501.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 378,
"cds_start": 749,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Asp213Ala",
"transcript": "NM_001350129.2",
"protein_id": "NP_001337058.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 341,
"cds_start": 638,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Asp213Ala",
"transcript": "NM_001365400.1",
"protein_id": "NP_001352329.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 341,
"cds_start": 638,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.560A>C",
"hgvs_p": "p.Asp187Ala",
"transcript": "NM_001350130.2",
"protein_id": "NP_001337059.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 315,
"cds_start": 560,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.560A>C",
"hgvs_p": "p.Asp187Ala",
"transcript": "NM_001350131.2",
"protein_id": "NP_001337060.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 315,
"cds_start": 560,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.560A>C",
"hgvs_p": "p.Asp187Ala",
"transcript": "NM_001365401.1",
"protein_id": "NP_001352330.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 315,
"cds_start": 560,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.302A>C",
"hgvs_p": "p.Asp101Ala",
"transcript": "ENST00000537523.5",
"protein_id": "ENSP00000439544.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 229,
"cds_start": 302,
"cds_end": null,
"cds_length": 690,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.212A>C",
"hgvs_p": "p.Asp71Ala",
"transcript": "ENST00000537829.1",
"protein_id": "ENSP00000438136.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 160,
"cds_start": 212,
"cds_end": null,
"cds_length": 483,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1175A>C",
"hgvs_p": "p.Asp392Ala",
"transcript": "XM_011509663.3",
"protein_id": "XP_011507965.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 567,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1160A>C",
"hgvs_p": "p.Asp387Ala",
"transcript": "XM_011509664.2",
"protein_id": "XP_011507966.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 562,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1175A>C",
"hgvs_p": "p.Asp392Ala",
"transcript": "XM_011509665.3",
"protein_id": "XP_011507967.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 536,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1160A>C",
"hgvs_p": "p.Asp387Ala",
"transcript": "XM_047423569.1",
"protein_id": "XP_047279525.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 531,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1061A>C",
"hgvs_p": "p.Asp354Ala",
"transcript": "XM_011509667.3",
"protein_id": "XP_011507969.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 529,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1061A>C",
"hgvs_p": "p.Asp354Ala",
"transcript": "XM_011509668.3",
"protein_id": "XP_011507970.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 529,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1061A>C",
"hgvs_p": "p.Asp354Ala",
"transcript": "XM_011509670.3",
"protein_id": "XP_011507972.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 529,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1061A>C",
"hgvs_p": "p.Asp354Ala",
"transcript": "XM_047423581.1",
"protein_id": "XP_047279537.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 529,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.Asp349Ala",
"transcript": "XM_005245291.5",
"protein_id": "XP_005245348.2",
"transcript_support_level": null,
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"phenotype_combined": "Variegate porphyria, childhood-onset",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}