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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: 5-141489592-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141489592&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141489592,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018929.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHGC5",
"gene_hgnc_id": 8718,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"transcript": "NM_018929.3",
"protein_id": "NP_061752.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 944,
"cds_start": 352,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252087.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018929.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHGC5",
"gene_hgnc_id": 8718,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"transcript": "ENST00000252087.3",
"protein_id": "ENSP00000252087.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 944,
"cds_start": 352,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018929.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252087.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA4",
"gene_hgnc_id": 8702,
"hgvs_c": "c.2515-5215C>T",
"hgvs_p": null,
"transcript": "NM_018917.4",
"protein_id": "NP_061740.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": null,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000571252.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018917.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA4",
"gene_hgnc_id": 8702,
"hgvs_c": "c.2515-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000571252.3",
"protein_id": "ENSP00000458570.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": null,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571252.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGC4",
"gene_hgnc_id": 8717,
"hgvs_c": "c.2442+1977C>T",
"hgvs_p": null,
"transcript": "NM_018928.3",
"protein_id": "NP_061751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": null,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306593.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018928.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGC4",
"gene_hgnc_id": 8717,
"hgvs_c": "c.2442+1977C>T",
"hgvs_p": null,
"transcript": "ENST00000306593.2",
"protein_id": "ENSP00000306918.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": null,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018928.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306593.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA10",
"gene_hgnc_id": 8697,
"hgvs_c": "c.2437-5215C>T",
"hgvs_p": null,
"transcript": "NM_018913.3",
"protein_id": "NP_061736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": null,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398610.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018913.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA10",
"gene_hgnc_id": 8697,
"hgvs_c": "c.2437-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000398610.3",
"protein_id": "ENSP00000381611.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": null,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018913.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398610.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA11",
"gene_hgnc_id": 8698,
"hgvs_c": "c.2434-5215C>T",
"hgvs_p": null,
"transcript": "NM_018914.3",
"protein_id": "NP_061737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": null,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398587.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018914.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA11",
"gene_hgnc_id": 8698,
"hgvs_c": "c.2434-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000398587.7",
"protein_id": "ENSP00000381589.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": null,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018914.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398587.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGC3",
"gene_hgnc_id": 8716,
"hgvs_c": "c.2431-5215C>T",
"hgvs_p": null,
"transcript": "NM_002588.4",
"protein_id": "NP_002579.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": null,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308177.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002588.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGC3",
"gene_hgnc_id": 8716,
"hgvs_c": "c.2431-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000308177.5",
"protein_id": "ENSP00000312070.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": null,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002588.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308177.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA12",
"gene_hgnc_id": 8699,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_003735.3",
"protein_id": "NP_003726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252085.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003735.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA2",
"gene_hgnc_id": 8700,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_018915.4",
"protein_id": "NP_061738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394576.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018915.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA3",
"gene_hgnc_id": 8701,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_018916.4",
"protein_id": "NP_061739.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253812.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018916.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA6",
"gene_hgnc_id": 8704,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_018919.3",
"protein_id": "NP_061742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000517434.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018919.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA7",
"gene_hgnc_id": 8705,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_018920.4",
"protein_id": "NP_061743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518325.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018920.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA9",
"gene_hgnc_id": 8707,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_018921.3",
"protein_id": "NP_061744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000573521.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018921.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA8",
"gene_hgnc_id": 8706,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "NM_032088.2",
"protein_id": "NP_114477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398604.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032088.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA12",
"gene_hgnc_id": 8699,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000252085.4",
"protein_id": "ENSP00000252085.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003735.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252085.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA3",
"gene_hgnc_id": 8701,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000253812.8",
"protein_id": "ENSP00000253812.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018916.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253812.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHGA2",
"gene_hgnc_id": 8700,
"hgvs_c": "c.2425-5215C>T",
"hgvs_p": null,
"transcript": "ENST00000394576.3",
"protein_id": "ENSP00000378077.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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"verdict": "Uncertain_significance",
"transcript": "NM_018925.3",
"gene_symbol": "PCDHGB5",
"hgnc_id": 8712,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2398-5215C>T",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "",
"gene_symbol": "PCDHG@",
"hgnc_id": 8695,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.141489592C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}