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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: 22-35746483-A-AAGCGGCTGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35746483&ref=A&alt=AAGCGGCTGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35746483,
"ref": "A",
"alt": "AAGCGGCTGC",
"effect": "conservative_inframe_insertion",
"transcript": "NM_001082578.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1207_1215dupGCAGCCGCT",
"hgvs_p": "p.Ala403_Ala405dup",
"transcript": "NM_001349999.2",
"protein_id": "NP_001336928.2",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 447,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "ENST00000695854.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349999.2"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1207_1215dupGCAGCCGCT",
"hgvs_p": "p.Ala403_Ala405dup",
"transcript": "ENST00000695854.1",
"protein_id": "ENSP00000512219.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 447,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "NM_001349999.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695854.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1219_1227dupGCAGCCGCT",
"hgvs_p": "p.Ala407_Ala409dup",
"transcript": "ENST00000438146.7",
"protein_id": "ENSP00000413035.2",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 451,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438146.7"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1006_1014dupGCAGCCGCT",
"hgvs_p": "p.Ala336_Ala338dup",
"transcript": "ENST00000449924.6",
"protein_id": "ENSP00000391670.2",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 380,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449924.6"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.994_1002dupGCAGCCGCT",
"hgvs_p": "p.Ala332_Ala334dup",
"transcript": "ENST00000416721.6",
"protein_id": "ENSP00000405651.2",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 376,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416721.6"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.940_948dupGCAGCCGCT",
"hgvs_p": "p.Ala314_Ala316dup",
"transcript": "ENST00000262829.11",
"protein_id": "ENSP00000262829.7",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 358,
"cds_start": 948,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262829.11"
},
{
"aa_ref": "L",
"aa_alt": "LQPL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.966_974dupGCAGCCGCT",
"hgvs_p": "p.Leu325_Thr326insGlnProLeu",
"transcript": "ENST00000359369.8",
"protein_id": "ENSP00000352328.4",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 370,
"cds_start": 974,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359369.8"
},
{
"aa_ref": "L",
"aa_alt": "LQPL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.966_974dupGCAGCCGCT",
"hgvs_p": "p.Leu325_Thr326insGlnProLeu",
"transcript": "ENST00000414461.6",
"protein_id": "ENSP00000407855.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 370,
"cds_start": 974,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414461.6"
},
{
"aa_ref": "L",
"aa_alt": "LQPL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.957_965dupGCAGCCGCT",
"hgvs_p": "p.Leu322_Thr323insGlnProLeu",
"transcript": "ENST00000405409.6",
"protein_id": "ENSP00000384944.2",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 367,
"cds_start": 965,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 6932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405409.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*500_*508dupGCAGCCGCT",
"hgvs_p": null,
"transcript": "ENST00000695805.1",
"protein_id": "ENSP00000512185.1",
"transcript_support_level": null,
"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": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*4190_*4198dupGCAGCCGCT",
"hgvs_p": null,
"transcript": "ENST00000695807.1",
"protein_id": "ENSP00000512187.1",
"transcript_support_level": null,
"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": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*500_*508dupGCAGCCGCT",
"hgvs_p": null,
"transcript": "ENST00000695805.1",
"protein_id": "ENSP00000512185.1",
"transcript_support_level": null,
"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": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*4190_*4198dupGCAGCCGCT",
"hgvs_p": null,
"transcript": "ENST00000695807.1",
"protein_id": "ENSP00000512187.1",
"transcript_support_level": null,
"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": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695807.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1336_1344dupGCAGCCGCT",
"hgvs_p": "p.Ala446_Ala448dup",
"transcript": "ENST00000921516.1",
"protein_id": "ENSP00000591575.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 490,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921516.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1327_1335dupGCAGCCGCT",
"hgvs_p": "p.Ala443_Ala445dup",
"transcript": "ENST00000921518.1",
"protein_id": "ENSP00000591577.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 487,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921518.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1324_1332dupGCAGCCGCT",
"hgvs_p": "p.Ala442_Ala444dup",
"transcript": "ENST00000921515.1",
"protein_id": "ENSP00000591574.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 486,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921515.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1225_1233dupGCAGCCGCT",
"hgvs_p": "p.Ala409_Ala411dup",
"transcript": "ENST00000908673.1",
"protein_id": "ENSP00000578732.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 453,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908673.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1222_1230dupGCAGCCGCT",
"hgvs_p": "p.Ala408_Ala410dup",
"transcript": "ENST00000908672.1",
"protein_id": "ENSP00000578731.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 452,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908672.1"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1219_1227dupGCAGCCGCT",
"hgvs_p": "p.Ala407_Ala409dup",
"transcript": "NM_001082578.4",
"protein_id": "NP_001076047.2",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 451,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082578.4"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1216_1224dupGCAGCCGCT",
"hgvs_p": "p.Ala406_Ala408dup",
"transcript": "NM_001082579.3",
"protein_id": "NP_001076048.2",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 450,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 7221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082579.3"
},
{
"aa_ref": "A",
"aa_alt": "AAAA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1216_1224dupGCAGCCGCT",
"hgvs_p": "p.Ala406_Ala408dup",
"transcript": "ENST00000908669.1",
"protein_id": "ENSP00000578728.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 450,
"cds_start": 1224,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 7196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908669.1"
},
{
"aa_ref": "A",
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],
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"splice_score_selected": null,
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{
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"BS2"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}