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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: 19-13081741-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13081741&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13081741,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000592199.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1140G>C",
"hgvs_p": "p.Ser380Ser",
"transcript": "NM_001365902.3",
"protein_id": "NP_001352831.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 502,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "ENST00000592199.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1140G>C",
"hgvs_p": "p.Ser380Ser",
"transcript": "ENST00000592199.6",
"protein_id": "ENSP00000467512.1",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 502,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 6019,
"mane_select": "NM_001365902.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Ser379Ser",
"transcript": "ENST00000587260.1",
"protein_id": "ENSP00000467785.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 440,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1116G>C",
"hgvs_p": "p.Ser372Ser",
"transcript": "ENST00000587760.5",
"protein_id": "ENSP00000466389.1",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 433,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1188G>C",
"hgvs_p": "p.Ser396Ser",
"transcript": "NM_001378405.1",
"protein_id": "NP_001365334.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 518,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1164G>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "NM_001271043.2",
"protein_id": "NP_001257972.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 510,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1164G>C",
"hgvs_p": "p.Ser388Ser",
"transcript": "ENST00000676441.1",
"protein_id": "ENSP00000502554.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 510,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Ser379Ser",
"transcript": "NM_001365984.2",
"protein_id": "NP_001352913.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 501,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1116G>C",
"hgvs_p": "p.Ser372Ser",
"transcript": "NM_001378404.1",
"protein_id": "NP_001365333.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 494,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1116G>C",
"hgvs_p": "p.Ser372Ser",
"transcript": "ENST00000585575.5",
"protein_id": "ENSP00000468794.1",
"transcript_support_level": 5,
"aa_start": 372,
"aa_end": null,
"aa_length": 494,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1014G>C",
"hgvs_p": "p.Ser338Ser",
"transcript": "ENST00000358552.8",
"protein_id": "ENSP00000351354.5",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 460,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.999G>C",
"hgvs_p": "p.Ser333Ser",
"transcript": "ENST00000588228.5",
"protein_id": "ENSP00000466735.1",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 455,
"cds_start": 999,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.993G>C",
"hgvs_p": "p.Ser331Ser",
"transcript": "NM_001440616.1",
"protein_id": "NP_001427545.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 453,
"cds_start": 993,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 5560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1140G>C",
"hgvs_p": "p.Ser380Ser",
"transcript": "NM_002501.4",
"protein_id": "NP_002492.2",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 441,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 5862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1140G>C",
"hgvs_p": "p.Ser380Ser",
"transcript": "ENST00000397661.6",
"protein_id": "ENSP00000380781.2",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 441,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Ser379Ser",
"transcript": "NM_001365985.2",
"protein_id": "NP_001352914.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 440,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1116G>C",
"hgvs_p": "p.Ser372Ser",
"transcript": "NM_001271044.3",
"protein_id": "NP_001257973.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 433,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1026G>C",
"hgvs_p": "p.Ser342Ser",
"transcript": "ENST00000360105.8",
"protein_id": "ENSP00000353219.4",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 403,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 5459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.1017G>C",
"hgvs_p": "p.Ser339Ser",
"transcript": "NM_001365982.2",
"protein_id": "NP_001352911.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 400,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.999G>C",
"hgvs_p": "p.Ser333Ser",
"transcript": "NM_001365983.2",
"protein_id": "NP_001352912.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 394,
"cds_start": 999,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.993G>C",
"hgvs_p": "p.Ser331Ser",
"transcript": "NM_001440617.1",
"protein_id": "NP_001427546.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 392,
"cds_start": 993,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.876G>C",
"hgvs_p": "p.Ser292Ser",
"transcript": "XM_005259917.5",
"protein_id": "XP_005259974.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 414,
"cds_start": 876,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIX",
"gene_hgnc_id": 7788,
"hgvs_c": "c.876G>C",
"hgvs_p": "p.Ser292Ser",
"transcript": "XM_047438863.1",
"protein_id": "XP_047294819.1",
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],
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{
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"BP7"
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"verdict": "Likely_benign",
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{
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"verdict": "Uncertain_significance",
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}
],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}