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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: 5-119502044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119502044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 119502044,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000510025.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Leu405Phe",
"transcript": "NM_000414.4",
"protein_id": "NP_000405.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 736,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": "ENST00000510025.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Leu405Phe",
"transcript": "ENST00000510025.7",
"protein_id": "ENSP00000424940.3",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 736,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": "NM_000414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Leu405Phe",
"transcript": "ENST00000509514.6",
"protein_id": "ENSP00000426272.2",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 713,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Leu430Phe",
"transcript": "NM_001199291.3",
"protein_id": "NP_001186220.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 761,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Leu430Phe",
"transcript": "ENST00000414835.7",
"protein_id": "ENSP00000411960.3",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 761,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.Leu402Phe",
"transcript": "NM_001374497.1",
"protein_id": "NP_001361426.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 733,
"cds_start": 1204,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Leu387Phe",
"transcript": "NM_001199292.2",
"protein_id": "NP_001186221.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 718,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Leu387Phe",
"transcript": "ENST00000515320.5",
"protein_id": "ENSP00000424613.1",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 718,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Phe",
"transcript": "NM_001292027.2",
"protein_id": "NP_001278956.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 712,
"cds_start": 1141,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Leu405Phe",
"transcript": "NM_001374498.1",
"protein_id": "NP_001361427.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 712,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Leu405Phe",
"transcript": "ENST00000682996.1",
"protein_id": "ENSP00000507792.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 712,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Leu405Phe",
"transcript": "ENST00000646058.1",
"protein_id": "ENSP00000493579.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 711,
"cds_start": 1213,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Leu296Phe",
"transcript": "NM_001374499.1",
"protein_id": "NP_001361428.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 627,
"cds_start": 886,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Leu268Phe",
"transcript": "NM_001374501.1",
"protein_id": "NP_001361430.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 599,
"cds_start": 802,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Leu268Phe",
"transcript": "NM_001374502.1",
"protein_id": "NP_001361431.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 599,
"cds_start": 802,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Leu268Phe",
"transcript": "NM_001374503.1",
"protein_id": "NP_001361432.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 599,
"cds_start": 802,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.802C>T",
"hgvs_p": "p.Leu268Phe",
"transcript": "ENST00000513628.5",
"protein_id": "ENSP00000425993.1",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 599,
"cds_start": 802,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Leu265Phe",
"transcript": "NM_001292028.2",
"protein_id": "NP_001278957.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 596,
"cds_start": 793,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Leu258Phe",
"transcript": "NM_001374500.1",
"protein_id": "NP_001361429.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 589,
"cds_start": 772,
"cds_end": null,
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"cdna_start": 1577,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Leu258Phe",
"transcript": "ENST00000645099.1",
"protein_id": "ENSP00000496091.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 589,
"cds_start": 772,
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"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "ENST00000518349.6",
"protein_id": "ENSP00000507185.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 484,
"cds_start": 457,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 512,
"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": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "n.1213C>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": 13,
"exon_rank_end": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.782,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6255,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.671,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "ENST00000510025.7",
"gene_symbol": "HSD17B4",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Leu405Phe"
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],
"clinvar_disease": "Bifunctional peroxisomal enzyme deficiency,Inborn genetic diseases,Perrault syndrome,Perrault syndrome 1,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:8",
"phenotype_combined": "Bifunctional peroxisomal enzyme deficiency|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome|Bifunctional peroxisomal enzyme deficiency;Perrault syndrome 1|Perrault syndrome 1|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}