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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: 11-117381775-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117381775&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117381775,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440949.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_014956.5",
"protein_id": "NP_055771.4",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1460,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278935.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014956.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "ENST00000278935.8",
"protein_id": "ENSP00000278935.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 1460,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014956.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278935.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1493C>G",
"hgvs_p": "p.Pro498Arg",
"transcript": "NM_001440949.1",
"protein_id": "NP_001427878.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1493,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440949.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440950.1",
"protein_id": "NP_001427879.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1460,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440950.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440951.1",
"protein_id": "NP_001427880.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1460,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440951.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1466C>G",
"hgvs_p": "p.Pro489Arg",
"transcript": "NM_001440952.1",
"protein_id": "NP_001427881.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 1457,
"cds_start": 1466,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440952.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1493C>G",
"hgvs_p": "p.Pro498Arg",
"transcript": "NM_001271933.2",
"protein_id": "NP_001258862.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1493,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271933.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440953.1",
"protein_id": "NP_001427882.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1452,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440953.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Pro472Arg",
"transcript": "ENST00000957770.1",
"protein_id": "ENSP00000627829.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 1437,
"cds_start": 1415,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957770.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1406C>G",
"hgvs_p": "p.Pro469Arg",
"transcript": "NM_001440954.1",
"protein_id": "NP_001427883.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1406,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440954.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1406C>G",
"hgvs_p": "p.Pro469Arg",
"transcript": "NM_001440955.1",
"protein_id": "NP_001427884.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1406,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440955.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1544C>G",
"hgvs_p": "p.Pro515Arg",
"transcript": "NM_001440956.1",
"protein_id": "NP_001427885.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1431,
"cds_start": 1544,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440956.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1544C>G",
"hgvs_p": "p.Pro515Arg",
"transcript": "NM_001440957.1",
"protein_id": "NP_001427886.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1430,
"cds_start": 1544,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440957.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1406C>G",
"hgvs_p": "p.Pro469Arg",
"transcript": "NM_001440958.1",
"protein_id": "NP_001427887.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1426,
"cds_start": 1406,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440958.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1406C>G",
"hgvs_p": "p.Pro469Arg",
"transcript": "NM_001440959.1",
"protein_id": "NP_001427888.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1426,
"cds_start": 1406,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440959.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1355C>G",
"hgvs_p": "p.Pro452Arg",
"transcript": "NM_001440960.1",
"protein_id": "NP_001427889.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1355,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440960.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1493C>G",
"hgvs_p": "p.Pro498Arg",
"transcript": "NM_001440961.1",
"protein_id": "NP_001427890.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 1414,
"cds_start": 1493,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440961.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440962.1",
"protein_id": "NP_001427891.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1411,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440962.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440963.1",
"protein_id": "NP_001427892.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1411,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440963.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440964.1",
"protein_id": "NP_001427893.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1410,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440964.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440965.1",
"protein_id": "NP_001427894.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1410,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440965.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP164",
"gene_hgnc_id": 29182,
"hgvs_c": "c.1484C>G",
"hgvs_p": "p.Pro495Arg",
"transcript": "NM_001440966.1",
"protein_id": "NP_001427895.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 1410,
"cds_start": 1484,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"phenotype_combined": "not provided|Nephronophthisis 15",
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}
],
"message": null
}