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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: 11-115178730-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=115178730&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 115178730,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001301043.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Ala404Val",
"transcript": "NM_001301043.2",
"protein_id": "NP_001287972.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 471,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331581.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301043.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Ala404Val",
"transcript": "ENST00000331581.11",
"protein_id": "ENSP00000329797.6",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 471,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301043.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331581.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Ala386Val",
"transcript": "ENST00000537058.5",
"protein_id": "ENSP00000439817.1",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 453,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537058.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "ENST00000536727.5",
"protein_id": "ENSP00000440322.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 443,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536727.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "ENST00000452722.7",
"protein_id": "ENSP00000395359.2",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 442,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452722.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ala347Val",
"transcript": "ENST00000542447.6",
"protein_id": "ENSP00000439176.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 414,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542447.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1034C>T",
"hgvs_p": "p.Ala345Val",
"transcript": "ENST00000545380.5",
"protein_id": "ENSP00000442387.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545380.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "n.1169C>T",
"hgvs_p": null,
"transcript": "ENST00000537140.5",
"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": "pseudogene",
"feature": "ENST00000537140.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "n.382C>T",
"hgvs_p": null,
"transcript": "ENST00000546000.1",
"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": "ENST00000546000.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1265C>T",
"hgvs_p": "p.Ala422Val",
"transcript": "ENST00000878174.1",
"protein_id": "ENSP00000548233.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 489,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878174.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Ala404Val",
"transcript": "ENST00000878173.1",
"protein_id": "ENSP00000548232.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 471,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878173.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Ala393Val",
"transcript": "ENST00000878172.1",
"protein_id": "ENSP00000548231.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 460,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878172.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Ala386Val",
"transcript": "NM_001301044.2",
"protein_id": "NP_001287973.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 453,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301044.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"transcript": "NM_001301045.2",
"protein_id": "NP_001287974.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 443,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301045.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ala375Val",
"transcript": "NM_014333.4",
"protein_id": "NP_055148.3",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 442,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014333.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Ala365Val",
"transcript": "ENST00000930502.1",
"protein_id": "ENSP00000600561.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 432,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930502.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Ala347Val",
"transcript": "NM_001098517.2",
"protein_id": "NP_001091987.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 414,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098517.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000612235.4",
"protein_id": "ENSP00000483648.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 346,
"cds_start": 917,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612235.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Ala410Val",
"transcript": "XM_017017457.3",
"protein_id": "XP_016872946.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 477,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017457.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1175C>T",
"hgvs_p": "p.Ala392Val",
"transcript": "XM_047426690.1",
"protein_id": "XP_047282646.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 459,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426690.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Ala382Val",
"transcript": "XM_047426691.1",
"protein_id": "XP_047282647.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 449,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426691.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Ala381Val",
"transcript": "XM_047426692.1",
"protein_id": "XP_047282648.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 448,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426692.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
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"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Ala364Val",
"transcript": "XM_047426693.1",
"protein_id": "XP_047282649.1",
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"aa_start": 364,
"aa_end": null,
"aa_length": 431,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426693.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
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"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_005271494.4",
"protein_id": "XP_005271551.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 425,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271494.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "XM_047426694.1",
"protein_id": "XP_047282650.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 420,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426694.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Ala257Val",
"transcript": "XM_047426695.1",
"protein_id": "XP_047282651.1",
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"aa_start": 257,
"aa_end": null,
"aa_length": 324,
"cds_start": 770,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426695.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "n.205C>T",
"hgvs_p": null,
"transcript": "ENST00000540852.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000540852.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "n.319C>T",
"hgvs_p": null,
"transcript": "ENST00000543375.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000543375.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"hgvs_c": "n.135C>T",
"hgvs_p": null,
"transcript": "ENST00000545960.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000545960.5"
}
],
"gene_symbol": "CADM1",
"gene_hgnc_id": 5951,
"dbsnp": "rs1012431388",
"frequency_reference_population": 0.000013633384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143679,
"gnomad_genomes_af": 0.00000657497,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.784774124622345,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.517,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6268,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001301043.2",
"gene_symbol": "CADM1",
"hgnc_id": 5951,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1211C>T",
"hgvs_p": "p.Ala404Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}