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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: 1-205524334-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205524334&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205524334,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_212503.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "NM_212502.3",
"protein_id": "NP_997667.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429964.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212502.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000429964.7",
"protein_id": "ENSP00000399082.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_212502.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429964.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000506784.5",
"protein_id": "ENSP00000423665.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 504,
"cds_start": 466,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506784.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000360066.6",
"protein_id": "ENSP00000353176.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360066.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "n.169C>T",
"hgvs_p": null,
"transcript": "ENST00000505932.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "n.1300C>T",
"hgvs_p": null,
"transcript": "ENST00000515494.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515494.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000906021.1",
"protein_id": "ENSP00000576080.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 512,
"cds_start": 466,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906021.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "NM_212503.3",
"protein_id": "NP_997668.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 504,
"cds_start": 466,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212503.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000906028.1",
"protein_id": "ENSP00000576087.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 504,
"cds_start": 466,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906028.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000906029.1",
"protein_id": "ENSP00000576088.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 504,
"cds_start": 466,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906029.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.466C>T",
"hgvs_p": "p.Arg156Cys",
"transcript": "ENST00000942642.1",
"protein_id": "ENSP00000612701.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 504,
"cds_start": 466,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942642.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "ENST00000927130.1",
"protein_id": "ENSP00000597189.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 483,
"cds_start": 403,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927130.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "ENST00000942641.1",
"protein_id": "ENSP00000612700.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 475,
"cds_start": 383,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942641.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "NM_002596.4",
"protein_id": "NP_002587.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002596.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906025.1",
"protein_id": "ENSP00000576084.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906025.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906026.1",
"protein_id": "ENSP00000576085.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906026.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906027.1",
"protein_id": "ENSP00000576086.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906027.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906030.1",
"protein_id": "ENSP00000576089.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906030.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906031.1",
"protein_id": "ENSP00000576090.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 474,
"cds_start": 376,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906031.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000927129.1",
"protein_id": "ENSP00000597188.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 473,
"cds_start": 376,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927129.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906024.1",
"protein_id": "ENSP00000576083.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 470,
"cds_start": 376,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906024.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Arg126Cys",
"transcript": "ENST00000906023.1",
"protein_id": "ENSP00000576082.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 455,
"cds_start": 376,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906023.1"
},
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}