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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: 3-3151021-ACA-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3151021&ref=ACA&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CRBN",
"hgnc_id": 30185,
"hgvs_c": "c.1171_1173delTGTinsCGC",
"hgvs_p": "p.Cys391Arg",
"inheritance_mode": "AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_016302.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "TRNT1",
"hgnc_id": 17341,
"hgvs_c": "c.*515_*517delACAinsGCG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001367321.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Very_Strong,PP3",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016302.4",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1171_1173delTGTinsCGC",
"hgvs_p": "p.Cys391Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000231948.9",
"protein_coding": true,
"protein_id": "NP_057386.2",
"strand": false,
"transcript": "NM_016302.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 442,
"aa_ref": "C",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000231948.9",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1171_1173delTGTinsCGC",
"hgvs_p": "p.Cys391Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016302.4",
"protein_coding": true,
"protein_id": "ENSP00000231948.4",
"strand": false,
"transcript": "ENST00000231948.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432408.6",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1168_1170delTGTinsCGC",
"hgvs_p": "p.Cys390Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412499.2",
"strand": false,
"transcript": "ENST00000432408.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000488263.5",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "n.3516_3518delTGTinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488263.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5628,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000491834.5",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "n.3597_3599delTGTinsCGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491834.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 490,
"aa_ref": "C",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639284.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1171_1173delTGTinsCGC",
"hgvs_p": "p.Cys391Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491442.1",
"strand": false,
"transcript": "ENST00000639284.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "C",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925602.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1210_1212delTGTinsCGC",
"hgvs_p": "p.Cys404Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595661.1",
"strand": false,
"transcript": "ENST00000925602.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001173482.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1168_1170delTGTinsCGC",
"hgvs_p": "p.Cys390Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166953.1",
"strand": false,
"transcript": "NM_001173482.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 441,
"aa_ref": "C",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866173.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1168_1170delTGTinsCGC",
"hgvs_p": "p.Cys390Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536232.1",
"strand": false,
"transcript": "ENST00000866173.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 440,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866176.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1165_1167delTGTinsCGC",
"hgvs_p": "p.Cys389Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536235.1",
"strand": false,
"transcript": "ENST00000866176.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 440,
"aa_ref": "C",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925600.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1165_1167delTGTinsCGC",
"hgvs_p": "p.Cys389Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595659.1",
"strand": false,
"transcript": "ENST00000925600.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 436,
"aa_ref": "C",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1153,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866174.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1153_1155delTGTinsCGC",
"hgvs_p": "p.Cys385Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536233.1",
"strand": false,
"transcript": "ENST00000866174.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "C",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1316,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970440.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1108_1110delTGTinsCGC",
"hgvs_p": "p.Cys370Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640499.1",
"strand": false,
"transcript": "ENST00000970440.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 397,
"aa_ref": "C",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1194,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925599.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1036_1038delTGTinsCGC",
"hgvs_p": "p.Cys346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595658.1",
"strand": false,
"transcript": "ENST00000925599.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "C",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424814.5",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1024_1026delTGTinsCGC",
"hgvs_p": "p.Cys342Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411047.1",
"strand": false,
"transcript": "ENST00000424814.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 392,
"aa_ref": "C",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1220,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1179,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866177.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1021_1023delTGTinsCGC",
"hgvs_p": "p.Cys341Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536236.1",
"strand": false,
"transcript": "ENST00000866177.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "C",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1128,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970439.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.970_972delTGTinsCGC",
"hgvs_p": "p.Cys324Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640498.1",
"strand": false,
"transcript": "ENST00000970439.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 374,
"aa_ref": "C",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1125,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866175.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.967_969delTGTinsCGC",
"hgvs_p": "p.Cys323Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536234.1",
"strand": false,
"transcript": "ENST00000866175.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "C",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 854,
"cds_end": null,
"cds_length": 996,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925601.1",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.838_840delTGTinsCGC",
"hgvs_p": "p.Cys280Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595660.1",
"strand": false,
"transcript": "ENST00000925601.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 398,
"aa_ref": "C",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1197,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533791.4",
"gene_hgnc_id": 30185,
"gene_symbol": "CRBN",
"hgvs_c": "c.1039_1041delTGTinsCGC",
"hgvs_p": "p.Cys347Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532093.1",
"strand": false,
"transcript": "XM_011533791.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 379,
"aa_ref": "C",
"aa_start": 328,
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