← 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: 11-115214699-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=115214699&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CADM1",
"hgnc_id": 5951,
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001301043.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 527,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8675,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1416,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301043.2",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331581.11",
"protein_coding": true,
"protein_id": "NP_001287972.1",
"strand": false,
"transcript": "NM_001301043.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8675,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1416,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000331581.11",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001301043.2",
"protein_coding": true,
"protein_id": "ENSP00000329797.6",
"strand": false,
"transcript": "ENST00000331581.11",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 453,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1362,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537058.5",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439817.1",
"strand": false,
"transcript": "ENST00000537058.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1332,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000536727.5",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440322.1",
"strand": false,
"transcript": "ENST00000536727.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1329,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000452722.7",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395359.2",
"strand": false,
"transcript": "ENST00000452722.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 414,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1245,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000542447.6",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439176.1",
"strand": false,
"transcript": "ENST00000542447.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 412,
"aa_ref": "N",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1239,
"cds_start": 897,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000545380.5",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.897T>C",
"hgvs_p": "p.Asn299Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442387.1",
"strand": false,
"transcript": "ENST00000545380.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537140.5",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "n.1032T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000537140.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000541434.5",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "n.903T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000541434.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 489,
"aa_ref": "N",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1470,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878174.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.957T>C",
"hgvs_p": "p.Asn319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548233.1",
"strand": false,
"transcript": "ENST00000878174.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 471,
"aa_ref": "N",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1416,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878173.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.957T>C",
"hgvs_p": "p.Asn319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548232.1",
"strand": false,
"transcript": "ENST00000878173.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "N",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1383,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878172.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.957T>C",
"hgvs_p": "p.Asn319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548231.1",
"strand": false,
"transcript": "ENST00000878172.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 453,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8621,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1362,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301044.2",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287973.1",
"strand": false,
"transcript": "NM_001301044.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8591,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1332,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301045.2",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287974.1",
"strand": false,
"transcript": "NM_001301045.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8588,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1329,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_014333.4",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055148.3",
"strand": false,
"transcript": "NM_014333.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4164,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1299,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930502.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.957T>C",
"hgvs_p": "p.Asn319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600561.1",
"strand": false,
"transcript": "ENST00000930502.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 414,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8504,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1245,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001098517.2",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091987.1",
"strand": false,
"transcript": "NM_001098517.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 346,
"aa_ref": "N",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1041,
"cds_start": 780,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000612235.4",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.780T>C",
"hgvs_p": "p.Asn260Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483648.1",
"strand": false,
"transcript": "ENST00000612235.4",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 477,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8740,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1434,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017017457.3",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Asn307Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872946.1",
"strand": false,
"transcript": "XM_017017457.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 459,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8678,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1380,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426690.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Asn307Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282646.1",
"strand": false,
"transcript": "XM_047426690.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 449,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8654,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1350,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426691.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Asn307Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282647.1",
"strand": false,
"transcript": "XM_047426691.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 448,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8642,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1347,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426692.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Asn307Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282648.1",
"strand": false,
"transcript": "XM_047426692.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 431,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8593,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1296,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426693.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Asn307Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282649.1",
"strand": false,
"transcript": "XM_047426693.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 425,
"aa_ref": "N",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8537,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1278,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005271494.4",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asn301Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271551.1",
"strand": false,
"transcript": "XM_005271494.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 420,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8557,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1263,
"cds_start": 921,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426694.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Asn307Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282650.1",
"strand": false,
"transcript": "XM_047426694.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 324,
"aa_ref": "N",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8632,
"cdna_start": 881,
"cds_end": null,
"cds_length": 975,
"cds_start": 462,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426695.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Asn154Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282651.1",
"strand": false,
"transcript": "XM_047426695.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000540373.1",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "n.335T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000540373.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441886.2",
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"hgvs_c": "n.-5T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000441886.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs34106103",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00032651634,
"gene_hgnc_id": 5951,
"gene_symbol": "CADM1",
"gnomad_exomes_ac": 241,
"gnomad_exomes_af": 0.000164871,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_ac": 286,
"gnomad_genomes_af": 0.00187839,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.035,
"pos": 115214699,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.11999999731779099,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.12,
"transcript": "NM_001301043.2"
}
]
}