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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: 3-3150920-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3150920&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 3150920,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016302.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1274C>G",
"hgvs_p": "p.Thr425Arg",
"transcript": "NM_016302.4",
"protein_id": "NP_057386.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 442,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231948.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016302.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1274C>G",
"hgvs_p": "p.Thr425Arg",
"transcript": "ENST00000231948.9",
"protein_id": "ENSP00000231948.4",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 442,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016302.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231948.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1271C>G",
"hgvs_p": "p.Thr424Arg",
"transcript": "ENST00000432408.6",
"protein_id": "ENSP00000412499.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 441,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432408.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "n.3619C>G",
"hgvs_p": null,
"transcript": "ENST00000488263.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "n.3700C>G",
"hgvs_p": null,
"transcript": "ENST00000491834.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491834.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1274C>G",
"hgvs_p": "p.Thr425Arg",
"transcript": "ENST00000639284.1",
"protein_id": "ENSP00000491442.1",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 490,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639284.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1313C>G",
"hgvs_p": "p.Thr438Arg",
"transcript": "ENST00000925602.1",
"protein_id": "ENSP00000595661.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 455,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925602.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1271C>G",
"hgvs_p": "p.Thr424Arg",
"transcript": "NM_001173482.1",
"protein_id": "NP_001166953.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 441,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173482.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1271C>G",
"hgvs_p": "p.Thr424Arg",
"transcript": "ENST00000866173.1",
"protein_id": "ENSP00000536232.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 441,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866173.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1268C>G",
"hgvs_p": "p.Thr423Arg",
"transcript": "ENST00000866176.1",
"protein_id": "ENSP00000536235.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 440,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866176.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1268C>G",
"hgvs_p": "p.Thr423Arg",
"transcript": "ENST00000925600.1",
"protein_id": "ENSP00000595659.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 440,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925600.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1256C>G",
"hgvs_p": "p.Thr419Arg",
"transcript": "ENST00000866174.1",
"protein_id": "ENSP00000536233.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 436,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866174.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "ENST00000970440.1",
"protein_id": "ENSP00000640499.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 421,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970440.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1139C>G",
"hgvs_p": "p.Thr380Arg",
"transcript": "ENST00000925599.1",
"protein_id": "ENSP00000595658.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 397,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925599.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Thr376Arg",
"transcript": "ENST00000424814.5",
"protein_id": "ENSP00000411047.1",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 393,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424814.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1124C>G",
"hgvs_p": "p.Thr375Arg",
"transcript": "ENST00000866177.1",
"protein_id": "ENSP00000536236.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 392,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866177.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1073C>G",
"hgvs_p": "p.Thr358Arg",
"transcript": "ENST00000970439.1",
"protein_id": "ENSP00000640498.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 375,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970439.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1070C>G",
"hgvs_p": "p.Thr357Arg",
"transcript": "ENST00000866175.1",
"protein_id": "ENSP00000536234.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 374,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866175.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Thr314Arg",
"transcript": "ENST00000925601.1",
"protein_id": "ENSP00000595660.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 331,
"cds_start": 941,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925601.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1142C>G",
"hgvs_p": "p.Thr381Arg",
"transcript": "XM_011533791.4",
"protein_id": "XP_011532093.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 398,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533791.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.1085C>G",
"hgvs_p": "p.Thr362Arg",
"transcript": "XM_005265202.5",
"protein_id": "XP_005265259.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 379,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265202.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.782C>G",
"hgvs_p": "p.Thr261Arg",
"transcript": "XM_047448254.1",
"protein_id": "XP_047304210.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 278,
"cds_start": 782,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448254.1"
},
{
"aa_ref": null,
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}