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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: 16-7710640-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7710640&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 7710640,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000550418.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe",
"transcript": "NM_018723.4",
"protein_id": "NP_061193.2",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "ENST00000550418.6",
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe",
"transcript": "ENST00000550418.6",
"protein_id": "ENSP00000450031.1",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "NM_018723.4",
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1152G>C",
"hgvs_p": "p.Leu384Phe",
"transcript": "ENST00000311745.9",
"protein_id": "ENSP00000309117.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 418,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3268,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1008G>C",
"hgvs_p": "p.Leu336Phe",
"transcript": "ENST00000553186.5",
"protein_id": "ENSP00000447753.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 370,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.*17G>C",
"hgvs_p": null,
"transcript": "NM_145893.3",
"protein_id": "NP_665900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "ENST00000355637.9",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.*17G>C",
"hgvs_p": null,
"transcript": "ENST00000355637.9",
"protein_id": "ENSP00000347855.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "NM_145893.3",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1135-61G>C",
"hgvs_p": null,
"transcript": "ENST00000436368.6",
"protein_id": "ENSP00000402745.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1605G>C",
"hgvs_p": "p.Leu535Phe",
"transcript": "NM_001415888.1",
"protein_id": "NP_001402817.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 569,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 4351,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1218G>C",
"hgvs_p": "p.Leu406Phe",
"transcript": "NM_001415891.1",
"protein_id": "NP_001402820.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 440,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 4793,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Leu399Phe",
"transcript": "NM_001415892.1",
"protein_id": "NP_001402821.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 433,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4011,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1164G>C",
"hgvs_p": "p.Leu388Phe",
"transcript": "NM_001415893.1",
"protein_id": "NP_001402822.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 422,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 3892,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1152G>C",
"hgvs_p": "p.Leu384Phe",
"transcript": "NM_145891.3",
"protein_id": "NP_665898.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 418,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 4009,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1149G>C",
"hgvs_p": "p.Leu383Phe",
"transcript": "NM_001415896.1",
"protein_id": "NP_001402825.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 417,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 4006,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Leu379Phe",
"transcript": "NM_001415897.1",
"protein_id": "NP_001402826.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 413,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 4712,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1116G>C",
"hgvs_p": "p.Leu372Phe",
"transcript": "NM_001415900.1",
"protein_id": "NP_001402829.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 406,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 3930,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1095G>C",
"hgvs_p": "p.Leu365Phe",
"transcript": "NM_001415902.1",
"protein_id": "NP_001402831.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 399,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3953,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe",
"transcript": "NM_001142334.2",
"protein_id": "NP_001135806.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 4009,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe",
"transcript": "ENST00000547338.5",
"protein_id": "ENSP00000447717.1",
"transcript_support_level": 2,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 1513,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe",
"transcript": "ENST00000675653.1",
"protein_id": "ENSP00000502718.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 4019,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe",
"transcript": "ENST00000675842.1",
"protein_id": "ENSP00000501599.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 4254,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1083G>C",
"hgvs_p": "p.Leu361Phe",
"transcript": "NM_001415903.1",
"protein_id": "NP_001402832.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 395,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3811,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1071G>C",
"hgvs_p": "p.Leu357Phe",
"transcript": "NM_001415905.1",
"protein_id": "NP_001402834.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 391,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 3799,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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"gnomad_exomes_af": 6.84424e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19993039965629578,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.2408,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.655,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000550418.6",
"gene_symbol": "RBFOX1",
"hgnc_id": 18222,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1089G>C",
"hgvs_p": "p.Leu363Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000777597.1",
"gene_symbol": "ENSG00000301273",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.403-17179C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Idiopathic generalized epilepsy,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Idiopathic generalized epilepsy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}