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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: 16-7709117-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7709117&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 7709117,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000550418.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"transcript": "NM_018723.4",
"protein_id": "NP_061193.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 397,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "ENST00000550418.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"transcript": "ENST00000550418.6",
"protein_id": "ENSP00000450031.1",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 397,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "NM_018723.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "ENST00000311745.9",
"protein_id": "ENSP00000309117.5",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 418,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "ENST00000436368.6",
"protein_id": "ENSP00000402745.2",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 392,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Ser",
"transcript": "ENST00000553186.5",
"protein_id": "ENSP00000447753.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 370,
"cds_start": 976,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Thr391Thr",
"transcript": "NM_145893.3",
"protein_id": "NP_665900.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 395,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "ENST00000355637.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Thr391Thr",
"transcript": "ENST00000355637.9",
"protein_id": "ENSP00000347855.4",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 395,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "NM_145893.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Gly525Ser",
"transcript": "NM_001415888.1",
"protein_id": "NP_001402817.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 569,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "NM_001415891.1",
"protein_id": "NP_001402820.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 440,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Gly389Ser",
"transcript": "NM_001415892.1",
"protein_id": "NP_001402821.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 433,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "NM_001308117.1",
"protein_id": "NP_001295046.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 425,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "ENST00000422070.8",
"protein_id": "ENSP00000391269.4",
"transcript_support_level": 2,
"aa_start": 396,
"aa_end": null,
"aa_length": 425,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Ser",
"transcript": "NM_001415893.1",
"protein_id": "NP_001402822.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 422,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Gly389Ser",
"transcript": "NM_001415894.1",
"protein_id": "NP_001402823.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 418,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Gly374Ser",
"transcript": "NM_145891.3",
"protein_id": "NP_665898.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 418,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Ser",
"transcript": "NM_001415896.1",
"protein_id": "NP_001402825.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 417,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"transcript": "NM_001415897.1",
"protein_id": "NP_001402826.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 413,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Gly378Ser",
"transcript": "NM_001415899.1",
"protein_id": "NP_001402828.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 407,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "NM_001415900.1",
"protein_id": "NP_001402829.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 406,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Gly355Ser",
"transcript": "NM_001415902.1",
"protein_id": "NP_001402831.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 399,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"transcript": "NM_001142334.2",
"protein_id": "NP_001135806.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 397,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
"gene_hgnc_id": 18222,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"transcript": "ENST00000547338.5",
"protein_id": "ENSP00000447717.1",
"transcript_support_level": 2,
"aa_start": 353,
"aa_end": null,
"aa_length": 397,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX1",
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Idiopathic generalized epilepsy|Self-limited epilepsy with centrotemporal spikes|not provided|RBFOX1-related disorder",
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"custom_annotations": null
}
],
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}