← 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: 1-156135949-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156135949&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156135949,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368300.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_170707.4",
"protein_id": "NP_733821.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "ENST00000368300.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000368300.9",
"protein_id": "ENSP00000357283.4",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "NM_170707.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_005572.4",
"protein_id": "NP_005563.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 985,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": "ENST00000677389.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000677389.1",
"protein_id": "ENSP00000503633.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 985,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": "NM_005572.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000368299.7",
"protein_id": "ENSP00000357282.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 614,
"cds_start": 985,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2253,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.249C>G",
"hgvs_p": null,
"transcript": "ENST00000368298.2",
"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": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000675667.1",
"protein_id": "ENSP00000501803.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 729,
"cds_start": 985,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001406985.1",
"protein_id": "NP_001393914.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 686,
"cds_start": 985,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001406983.1",
"protein_id": "NP_001393912.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001406991.1",
"protein_id": "NP_001393920.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000361308.9",
"protein_id": "ENSP00000355292.6",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000675939.1",
"protein_id": "ENSP00000502256.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000683032.1",
"protein_id": "ENSP00000506771.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 664,
"cds_start": 985,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_170708.4",
"protein_id": "NP_733822.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 634,
"cds_start": 985,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000676385.2",
"protein_id": "ENSP00000502091.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 634,
"cds_start": 985,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000682650.1",
"protein_id": "ENSP00000506904.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 634,
"cds_start": 985,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001282626.2",
"protein_id": "NP_001269555.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 614,
"cds_start": 985,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "NM_001406986.1",
"protein_id": "NP_001393915.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 583,
"cds_start": 742,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "NM_001406987.1",
"protein_id": "NP_001393916.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 583,
"cds_start": 742,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "NM_001257374.3",
"protein_id": "NP_001244303.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 574,
"cds_start": 649,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "ENST00000448611.6",
"protein_id": "ENSP00000395597.2",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 574,
"cds_start": 649,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001282625.2",
"protein_id": "NP_001269554.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 985,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001406984.1",
"protein_id": "NP_001393913.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 985,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "NM_001406992.1",
"protein_id": "NP_001393921.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 985,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000368301.6",
"protein_id": "ENSP00000357284.2",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 985,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.688C>G",
"hgvs_p": "p.Arg230Gly",
"transcript": "NM_001406988.1",
"protein_id": "NP_001393917.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 565,
"cds_start": 688,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.688C>G",
"hgvs_p": "p.Arg230Gly",
"transcript": "ENST00000473598.6",
"protein_id": "ENSP00000421821.1",
"transcript_support_level": 2,
"aa_start": 230,
"aa_end": null,
"aa_length": 565,
"cds_start": 688,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "NM_001406989.1",
"protein_id": "NP_001393918.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 552,
"cds_start": 649,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001406990.1",
"protein_id": "NP_001393919.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 500,
"cds_start": 427,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "NM_001282624.2",
"protein_id": "NP_001269553.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 491,
"cds_start": 742,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"transcript": "ENST00000368297.5",
"protein_id": "ENSP00000357280.1",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 491,
"cds_start": 742,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001406993.1",
"protein_id": "NP_001393922.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 478,
"cds_start": 427,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Arg121Gly",
"transcript": "NM_001406994.1",
"protein_id": "NP_001393923.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 478,
"cds_start": 361,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001406995.1",
"protein_id": "NP_001393924.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 478,
"cds_start": 427,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001406996.1",
"protein_id": "NP_001393925.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 478,
"cds_start": 427,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001406997.1",
"protein_id": "NP_001393926.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 478,
"cds_start": 427,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "ENST00000504687.7",
"protein_id": "ENSP00000426535.3",
"transcript_support_level": 4,
"aa_start": 143,
"aa_end": null,
"aa_length": 478,
"cds_start": 427,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Arg217Gly",
"transcript": "NM_001406998.1",
"protein_id": "NP_001393927.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 460,
"cds_start": 649,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Arg121Gly",
"transcript": "NM_001406999.1",
"protein_id": "NP_001393928.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 456,
"cds_start": 361,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Arg121Gly",
"transcript": "NM_001407000.1",
"protein_id": "NP_001393929.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 456,
"cds_start": 361,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Arg121Gly",
"transcript": "NM_001407001.1",
"protein_id": "NP_001393930.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 456,
"cds_start": 361,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001407002.1",
"protein_id": "NP_001393931.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 386,
"cds_start": 427,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Arg143Gly",
"transcript": "NM_001407003.1",
"protein_id": "NP_001393932.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 386,
"cds_start": 427,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1573,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.1360C>G",
"hgvs_p": null,
"transcript": "ENST00000496738.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2987,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.217C>G",
"hgvs_p": null,
"transcript": "ENST00000498722.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 1031,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*335C>G",
"hgvs_p": null,
"transcript": "ENST00000674518.1",
"protein_id": "ENSP00000502261.1",
"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": 2391,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*784C>G",
"hgvs_p": null,
"transcript": "ENST00000674600.1",
"protein_id": "ENSP00000501666.1",
"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": 2576,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.985C>G",
"hgvs_p": null,
"transcript": "ENST00000674720.1",
"protein_id": "ENSP00000502798.1",
"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": 3016,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.678C>G",
"hgvs_p": null,
"transcript": "ENST00000675431.1",
"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": 1514,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*785C>G",
"hgvs_p": null,
"transcript": "ENST00000675455.1",
"protein_id": "ENSP00000501795.1",
"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": 2297,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*456C>G",
"hgvs_p": null,
"transcript": "ENST00000675874.1",
"protein_id": "ENSP00000501851.1",
"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": 2239,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.1025C>G",
"hgvs_p": null,
"transcript": "ENST00000675881.1",
"protein_id": "ENSP00000501670.1",
"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": 3218,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.1360C>G",
"hgvs_p": null,
"transcript": "ENST00000675989.1",
"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": 3616,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.1025C>G",
"hgvs_p": null,
"transcript": "ENST00000676208.1",
"protein_id": "ENSP00000502468.1",
"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": 2528,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.1360C>G",
"hgvs_p": null,
"transcript": "ENST00000676283.1",
"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": 3342,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.1025C>G",
"hgvs_p": null,
"transcript": "ENST00000676434.1",
"protein_id": "ENSP00000501648.1",
"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": 3212,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.985C>G",
"hgvs_p": null,
"transcript": "ENST00000684195.1",
"protein_id": "ENSP00000508220.1",
"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": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*335C>G",
"hgvs_p": null,
"transcript": "ENST00000674518.1",
"protein_id": "ENSP00000502261.1",
"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": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*784C>G",
"hgvs_p": null,
"transcript": "ENST00000674600.1",
"protein_id": "ENSP00000501666.1",
"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": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*785C>G",
"hgvs_p": null,
"transcript": "ENST00000675455.1",
"protein_id": "ENSP00000501795.1",
"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": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*456C>G",
"hgvs_p": null,
"transcript": "ENST00000675874.1",
"protein_id": "ENSP00000501851.1",
"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": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"dbsnp": "rs775159300",
"frequency_reference_population": 0.000009914463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102628,
"gnomad_genomes_af": 0.00000656996,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016963399248197675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.525,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.743,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM1"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368300.9",
"gene_symbol": "LMNA",
"hgnc_id": 6636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly"
}
],
"clinvar_disease": " Dunnigan type, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, autosomal dominant,Charcot-Marie-Tooth disease type 2,Charcot-Marie-Tooth disease type 2B1,Congenital muscular dystrophy due to LMNA mutation,Dilated cardiomyopathy 1A,Emery-Dreifuss muscular dystrophy,Emery-Dreifuss muscular dystrophy 2,Familial partial lipodystrophy,Hutchinson-Gilford syndrome,Lethal tight skin contracture syndrome,Lipoatrophy with Diabetes,Mandibuloacral dysplasia with type A lipodystrophy,not specified",
"clinvar_classification": "Uncertain significance/Uncertain risk allele",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:13",
"phenotype_combined": "not specified|Mandibuloacral dysplasia with type A lipodystrophy|Familial partial lipodystrophy, Dunnigan type|Charcot-Marie-Tooth disease type 2|Emery-Dreifuss muscular dystrophy|Dilated cardiomyopathy 1A|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Charcot-Marie-Tooth disease type 2B1|Hutchinson-Gilford syndrome|Congenital muscular dystrophy due to LMNA mutation|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules|Lethal tight skin contracture syndrome",
"pathogenicity_classification_combined": "Uncertain significance/Uncertain risk allele",
"custom_annotations": null
}
],
"message": null
}