← 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: 1-207752280-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207752280&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207752280,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367042.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172351.3",
"protein_id": "NP_758861.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 377,
"cds_start": 68,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": "ENST00000367042.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000367042.6",
"protein_id": "ENSP00000356009.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 377,
"cds_start": 68,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": "NM_172351.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000322875.8",
"protein_id": "ENSP00000313875.4",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 399,
"cds_start": 68,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000358170.6",
"protein_id": "ENSP00000350893.2",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 392,
"cds_start": 68,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000354848.5",
"protein_id": "ENSP00000346912.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 384,
"cds_start": 68,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000357714.5",
"protein_id": "ENSP00000350346.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 369,
"cds_start": 68,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000367041.5",
"protein_id": "ENSP00000356008.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 362,
"cds_start": 68,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000360212.6",
"protein_id": "ENSP00000353342.2",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 355,
"cds_start": 68,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000322918.9",
"protein_id": "ENSP00000314664.5",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 349,
"cds_start": 68,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.213C>G",
"hgvs_p": null,
"transcript": "ENST00000469535.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172359.3",
"protein_id": "NP_758869.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 399,
"cds_start": 68,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_002389.4",
"protein_id": "NP_002380.3",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 392,
"cds_start": 68,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_153826.4",
"protein_id": "NP_722548.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 384,
"cds_start": 68,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172358.3",
"protein_id": "NP_758868.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 373,
"cds_start": 68,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000695777.1",
"protein_id": "ENSP00000512167.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 373,
"cds_start": 68,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172356.3",
"protein_id": "NP_758866.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 370,
"cds_start": 68,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000480003.5",
"protein_id": "ENSP00000418471.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 370,
"cds_start": 68,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172353.3",
"protein_id": "NP_758863.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 369,
"cds_start": 68,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172355.3",
"protein_id": "NP_758865.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 363,
"cds_start": 68,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172352.3",
"protein_id": "NP_758862.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 362,
"cds_start": 68,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000695782.1",
"protein_id": "ENSP00000512171.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 358,
"cds_start": 68,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172361.3",
"protein_id": "NP_758871.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 355,
"cds_start": 68,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172350.3",
"protein_id": "NP_758860.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 349,
"cds_start": 68,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "NM_172357.3",
"protein_id": "NP_758867.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 348,
"cds_start": 68,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000695780.1",
"protein_id": "ENSP00000512169.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 346,
"cds_start": 68,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "ENST00000367047.5",
"protein_id": "ENSP00000356014.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 336,
"cds_start": 68,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "XM_047420888.1",
"protein_id": "XP_047276844.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 392,
"cds_start": 68,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "XM_011509563.3",
"protein_id": "XP_011507865.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 385,
"cds_start": 68,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "XM_047420894.1",
"protein_id": "XP_047276850.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 377,
"cds_start": 68,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "XM_047420901.1",
"protein_id": "XP_047276857.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 363,
"cds_start": 68,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly",
"transcript": "XM_047420909.1",
"protein_id": "XP_047276865.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 362,
"cds_start": 68,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.236C>G",
"hgvs_p": null,
"transcript": "ENST00000496723.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.229C>G",
"hgvs_p": null,
"transcript": "ENST00000636114.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.68C>G",
"hgvs_p": null,
"transcript": "ENST00000695778.1",
"protein_id": "ENSP00000512168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.244C>G",
"hgvs_p": null,
"transcript": "ENST00000695779.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.68C>G",
"hgvs_p": null,
"transcript": "ENST00000695781.1",
"protein_id": "ENSP00000512170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.220C>G",
"hgvs_p": null,
"transcript": "ENST00000695783.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.68C>G",
"hgvs_p": null,
"transcript": "ENST00000695784.1",
"protein_id": "ENSP00000512172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"hgvs_c": "n.30+183C>G",
"hgvs_p": null,
"transcript": "ENST00000493796.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD46",
"gene_hgnc_id": 6953,
"dbsnp": "rs765870721",
"frequency_reference_population": 0.000004104568,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410457,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15341737866401672,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.1317,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.183,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367042.6",
"gene_symbol": "CD46",
"hgnc_id": 6953,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.68C>G",
"hgvs_p": "p.Ala23Gly"
}
],
"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
}