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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: 5-119525228-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119525228&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 119525228,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000510025.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Cys",
"transcript": "NM_000414.4",
"protein_id": "NP_000405.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 736,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": "ENST00000510025.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Cys",
"transcript": "ENST00000510025.7",
"protein_id": "ENSP00000424940.3",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 736,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": "NM_000414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Arg483Cys",
"transcript": "ENST00000509514.6",
"protein_id": "ENSP00000426272.2",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 713,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1591C>T",
"hgvs_p": "p.Arg531Cys",
"transcript": "NM_001199291.3",
"protein_id": "NP_001186220.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 761,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1591C>T",
"hgvs_p": "p.Arg531Cys",
"transcript": "ENST00000414835.7",
"protein_id": "ENSP00000411960.3",
"transcript_support_level": 2,
"aa_start": 531,
"aa_end": null,
"aa_length": 761,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1507C>T",
"hgvs_p": "p.Arg503Cys",
"transcript": "NM_001374497.1",
"protein_id": "NP_001361426.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 733,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Arg488Cys",
"transcript": "NM_001199292.2",
"protein_id": "NP_001186221.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 718,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Arg488Cys",
"transcript": "ENST00000515320.5",
"protein_id": "ENSP00000424613.1",
"transcript_support_level": 2,
"aa_start": 488,
"aa_end": null,
"aa_length": 718,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482Cys",
"transcript": "NM_001292027.2",
"protein_id": "NP_001278956.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 712,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482Cys",
"transcript": "NM_001374498.1",
"protein_id": "NP_001361427.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 712,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482Cys",
"transcript": "ENST00000682996.1",
"protein_id": "ENSP00000507792.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 712,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Cys",
"transcript": "ENST00000646058.1",
"protein_id": "ENSP00000493579.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 711,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397Cys",
"transcript": "NM_001374499.1",
"protein_id": "NP_001361428.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 627,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Arg369Cys",
"transcript": "NM_001374501.1",
"protein_id": "NP_001361430.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 599,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Arg369Cys",
"transcript": "NM_001374502.1",
"protein_id": "NP_001361431.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 599,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Arg369Cys",
"transcript": "NM_001374503.1",
"protein_id": "NP_001361432.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 599,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Arg369Cys",
"transcript": "ENST00000513628.5",
"protein_id": "ENSP00000425993.1",
"transcript_support_level": 2,
"aa_start": 369,
"aa_end": null,
"aa_length": 599,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366Cys",
"transcript": "NM_001292028.2",
"protein_id": "NP_001278957.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 596,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"transcript": "NM_001374500.1",
"protein_id": "NP_001361429.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 589,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"transcript": "ENST00000645099.1",
"protein_id": "ENSP00000496091.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 589,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "ENST00000518349.6",
"protein_id": "ENSP00000507185.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 484,
"cds_start": 760,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "n.*78C>T",
"hgvs_p": null,
"transcript": "ENST00000442060.7",
"protein_id": "ENSP00000390208.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:1",
"phenotype_combined": "Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency|Inborn genetic diseases|not provided|Perrault syndrome 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}