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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: 16-7709102-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=7709102&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 7709102,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000550418.6",
"consequences": [
{
"aa_ref": "P",
"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.1042C>T",
"hgvs_p": "p.Pro348Ser",
"transcript": "NM_018723.4",
"protein_id": "NP_061193.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 397,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "ENST00000550418.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1042C>T",
"hgvs_p": "p.Pro348Ser",
"transcript": "ENST00000550418.6",
"protein_id": "ENSP00000450031.1",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 397,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": "NM_018723.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1105C>T",
"hgvs_p": "p.Pro369Ser",
"transcript": "ENST00000311745.9",
"protein_id": "ENSP00000309117.5",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 418,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1105C>T",
"hgvs_p": "p.Pro369Ser",
"transcript": "ENST00000436368.6",
"protein_id": "ENSP00000402745.2",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 392,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.961C>T",
"hgvs_p": "p.Pro321Ser",
"transcript": "ENST00000553186.5",
"protein_id": "ENSP00000447753.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 370,
"cds_start": 961,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"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.1158C>T",
"hgvs_p": "p.Leu386Leu",
"transcript": "NM_145893.3",
"protein_id": "NP_665900.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "ENST00000355637.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"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.1158C>T",
"hgvs_p": "p.Leu386Leu",
"transcript": "ENST00000355637.9",
"protein_id": "ENSP00000347855.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1158,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": "NM_145893.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1558C>T",
"hgvs_p": "p.Pro520Ser",
"transcript": "NM_001415888.1",
"protein_id": "NP_001402817.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 569,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1171C>T",
"hgvs_p": "p.Pro391Ser",
"transcript": "NM_001415891.1",
"protein_id": "NP_001402820.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 440,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1150C>T",
"hgvs_p": "p.Pro384Ser",
"transcript": "NM_001415892.1",
"protein_id": "NP_001402821.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 433,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1171C>T",
"hgvs_p": "p.Pro391Ser",
"transcript": "NM_001308117.1",
"protein_id": "NP_001295046.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 425,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1171C>T",
"hgvs_p": "p.Pro391Ser",
"transcript": "ENST00000422070.8",
"protein_id": "ENSP00000391269.4",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 425,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "NM_001415893.1",
"protein_id": "NP_001402822.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 422,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1150C>T",
"hgvs_p": "p.Pro384Ser",
"transcript": "NM_001415894.1",
"protein_id": "NP_001402823.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 418,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1105C>T",
"hgvs_p": "p.Pro369Ser",
"transcript": "NM_145891.3",
"protein_id": "NP_665898.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 418,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1102C>T",
"hgvs_p": "p.Pro368Ser",
"transcript": "NM_001415896.1",
"protein_id": "NP_001402825.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 417,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1090C>T",
"hgvs_p": "p.Pro364Ser",
"transcript": "NM_001415897.1",
"protein_id": "NP_001402826.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 413,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1117C>T",
"hgvs_p": "p.Pro373Ser",
"transcript": "NM_001415899.1",
"protein_id": "NP_001402828.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 407,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1069C>T",
"hgvs_p": "p.Pro357Ser",
"transcript": "NM_001415900.1",
"protein_id": "NP_001402829.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 406,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "NM_001415902.1",
"protein_id": "NP_001402831.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 399,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1042C>T",
"hgvs_p": "p.Pro348Ser",
"transcript": "NM_001142334.2",
"protein_id": "NP_001135806.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 397,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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.1042C>T",
"hgvs_p": "p.Pro348Ser",
"transcript": "ENST00000547338.5",
"protein_id": "ENSP00000447717.1",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 397,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"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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{
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "RBFOX1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}