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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: 11-65535978-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65535978&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65535978,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000270176.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_020680.4",
"protein_id": "NP_065731.3",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 808,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "ENST00000270176.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000270176.10",
"protein_id": "ENSP00000270176.5",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 808,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "NM_020680.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000420247.6",
"protein_id": "ENSP00000408192.2",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 791,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000524944.5",
"protein_id": "ENSP00000432175.1",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 775,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425179.1",
"protein_id": "NP_001412108.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 807,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "NM_001425180.1",
"protein_id": "NP_001412109.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 807,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425181.1",
"protein_id": "NP_001412110.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 807,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425182.1",
"protein_id": "NP_001412111.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 806,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001048218.2",
"protein_id": "NP_001041683.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 791,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "NM_001425183.1",
"protein_id": "NP_001412112.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 790,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425184.1",
"protein_id": "NP_001412113.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 790,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425185.1",
"protein_id": "NP_001412114.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 787,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000533862.5",
"protein_id": "ENSP00000437254.1",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 787,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425186.1",
"protein_id": "NP_001412115.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 786,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ala445Val",
"transcript": "NM_001425187.1",
"protein_id": "NP_001412116.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 782,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425188.1",
"protein_id": "NP_001412117.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 781,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001411022.1",
"protein_id": "NP_001397951.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 780,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ala443Val",
"transcript": "NM_001425189.1",
"protein_id": "NP_001412118.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 780,
"cds_start": 1328,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425190.1",
"protein_id": "NP_001412119.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 780,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000525364.5",
"protein_id": "ENSP00000431635.1",
"transcript_support_level": 5,
"aa_start": 471,
"aa_end": null,
"aa_length": 780,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ala433Val",
"transcript": "NM_001425191.1",
"protein_id": "NP_001412120.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 770,
"cds_start": 1298,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "NM_001425192.1",
"protein_id": "NP_001412121.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 770,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1412C>T",
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"gnomad_exomes_af": 0.00000274632,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.850866436958313,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.368,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.26,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000270176.10",
"gene_symbol": "SCYL1",
"hgnc_id": 14372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val"
}
],
"clinvar_disease": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}