← Back to variant description
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: 11-618013-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=618013&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDHR5",
"hgnc_id": 7521,
"hgvs_c": "c.2059G>C",
"hgvs_p": "p.Ala687Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_021924.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5591,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15356916189193726,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2059,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_021924.5",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2059G>C",
"hgvs_p": "p.Ala687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397542.7",
"protein_coding": true,
"protein_id": "NP_068743.3",
"strand": false,
"transcript": "NM_021924.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2059,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000397542.7",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2059G>C",
"hgvs_p": "p.Ala687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021924.5",
"protein_coding": true,
"protein_id": "ENSP00000380676.2",
"strand": false,
"transcript": "ENST00000397542.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 651,
"aa_ref": "A",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000349570.11",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Ala493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345726.7",
"strand": false,
"transcript": "ENST00000349570.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 873,
"aa_ref": "A",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000872876.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Ala715Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542935.1",
"strand": false,
"transcript": "ENST00000872876.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 867,
"aa_ref": "A",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000872874.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2125G>C",
"hgvs_p": "p.Ala709Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542933.1",
"strand": false,
"transcript": "ENST00000872874.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 862,
"aa_ref": "A",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872883.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2110G>C",
"hgvs_p": "p.Ala704Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542942.1",
"strand": false,
"transcript": "ENST00000872883.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2059,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000674088.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2059G>C",
"hgvs_p": "p.Ala687Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501074.1",
"strand": false,
"transcript": "ENST00000674088.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 843,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872868.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2053G>C",
"hgvs_p": "p.Ala685Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542927.1",
"strand": false,
"transcript": "ENST00000872868.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 842,
"aa_ref": "A",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872880.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Ala684Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542939.1",
"strand": false,
"transcript": "ENST00000872880.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 842,
"aa_ref": "A",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872884.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2050G>C",
"hgvs_p": "p.Ala684Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542943.1",
"strand": false,
"transcript": "ENST00000872884.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001171968.3",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2041G>C",
"hgvs_p": "p.Ala681Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165439.2",
"strand": false,
"transcript": "NM_001171968.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000358353.8",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2041G>C",
"hgvs_p": "p.Ala681Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351118.4",
"strand": false,
"transcript": "ENST00000358353.8",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2035,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872873.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2035G>C",
"hgvs_p": "p.Ala679Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542932.1",
"strand": false,
"transcript": "ENST00000872873.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 831,
"aa_ref": "A",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 2057,
"cds_end": null,
"cds_length": 2496,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872877.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.2017G>C",
"hgvs_p": "p.Ala673Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542936.1",
"strand": false,
"transcript": "ENST00000872877.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1966,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872864.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1966G>C",
"hgvs_p": "p.Ala656Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542923.1",
"strand": false,
"transcript": "ENST00000872864.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 808,
"aa_ref": "A",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 2034,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872866.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1948G>C",
"hgvs_p": "p.Ala650Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542925.1",
"strand": false,
"transcript": "ENST00000872866.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 807,
"aa_ref": "A",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872867.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Ala649Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542926.1",
"strand": false,
"transcript": "ENST00000872867.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 804,
"aa_ref": "A",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1936,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872881.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1936G>C",
"hgvs_p": "p.Ala646Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542940.1",
"strand": false,
"transcript": "ENST00000872881.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 801,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 2406,
"cds_start": 1927,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872872.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1927G>C",
"hgvs_p": "p.Ala643Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542931.1",
"strand": false,
"transcript": "ENST00000872872.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1864,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872865.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1864G>C",
"hgvs_p": "p.Ala622Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542924.1",
"strand": false,
"transcript": "ENST00000872865.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 776,
"aa_ref": "A",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954966.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1852G>C",
"hgvs_p": "p.Ala618Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625025.1",
"strand": false,
"transcript": "ENST00000954966.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "A",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1750,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872875.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1750G>C",
"hgvs_p": "p.Ala584Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542934.1",
"strand": false,
"transcript": "ENST00000872875.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 679,
"aa_ref": "A",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872879.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Ala521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542938.1",
"strand": false,
"transcript": "ENST00000872879.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 651,
"aa_ref": "A",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_031264.5",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Ala493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112554.3",
"strand": false,
"transcript": "NM_031264.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872871.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1471G>C",
"hgvs_p": "p.Ala491Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542930.1",
"strand": false,
"transcript": "ENST00000872871.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 648,
"aa_ref": "A",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1468,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872878.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1468G>C",
"hgvs_p": "p.Ala490Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542937.1",
"strand": false,
"transcript": "ENST00000872878.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 632,
"aa_ref": "A",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872870.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1420G>C",
"hgvs_p": "p.Ala474Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542929.1",
"strand": false,
"transcript": "ENST00000872870.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 620,
"aa_ref": "A",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872869.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1384G>C",
"hgvs_p": "p.Ala462Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542928.1",
"strand": false,
"transcript": "ENST00000872869.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 765,
"aa_ref": "A",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1819,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_006718253.4",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1819G>C",
"hgvs_p": "p.Ala607Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718316.1",
"strand": false,
"transcript": "XM_006718253.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 734,
"aa_ref": "A",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1726,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011520188.3",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1726G>C",
"hgvs_p": "p.Ala576Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518490.1",
"strand": false,
"transcript": "XM_011520188.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 703,
"aa_ref": "A",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011520189.3",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1633G>C",
"hgvs_p": "p.Ala545Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518491.1",
"strand": false,
"transcript": "XM_011520189.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "S",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1392,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011520190.3",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1392G>C",
"hgvs_p": "p.Ser464Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518492.1",
"strand": false,
"transcript": "XM_011520190.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 570,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": null,
"cds_end": null,
"cds_length": 1713,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954967.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1294-243G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625026.1",
"strand": false,
"transcript": "ENST00000954967.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": null,
"cds_end": null,
"cds_length": 1650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954968.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1379-391G>C",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625027.1",
"strand": false,
"transcript": "ENST00000954968.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": null,
"cds_end": null,
"cds_length": 1620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872882.1",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "c.1201-243G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542941.1",
"strand": false,
"transcript": "ENST00000872882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000531177.5",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "n.*1891G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437255.1",
"strand": false,
"transcript": "ENST00000531177.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000531177.5",
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"hgvs_c": "n.*1891G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437255.1",
"strand": false,
"transcript": "ENST00000531177.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs7108757",
"effect": "missense_variant",
"frequency_reference_population": 6.8506944e-7,
"gene_hgnc_id": 7521,
"gene_symbol": "CDHR5",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85069e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.036,
"pos": 618013,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.065,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_021924.5"
}
]
}