← 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: 19-48115684-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48115684&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48115684,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000234.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Glu909Lys",
"transcript": "NM_000234.3",
"protein_id": "NP_000225.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 919,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": "ENST00000263274.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000234.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Glu909Lys",
"transcript": "ENST00000263274.12",
"protein_id": "ENSP00000263274.6",
"transcript_support_level": 1,
"aa_start": 909,
"aa_end": null,
"aa_length": 919,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": "NM_000234.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263274.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1322G>A",
"hgvs_p": null,
"transcript": "ENST00000594759.5",
"protein_id": "ENSP00000471380.1",
"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": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000594759.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1322G>A",
"hgvs_p": null,
"transcript": "ENST00000594759.5",
"protein_id": "ENSP00000471380.1",
"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": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000594759.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Glu943Lys",
"transcript": "ENST00000916675.1",
"protein_id": "ENSP00000586734.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 953,
"cds_start": 2827,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2997,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916675.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Glu909Lys",
"transcript": "ENST00000699868.1",
"protein_id": "ENSP00000514664.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 919,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699868.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Glu909Lys",
"transcript": "ENST00000884164.1",
"protein_id": "ENSP00000554222.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 919,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884164.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Glu909Lys",
"transcript": "ENST00000916664.1",
"protein_id": "ENSP00000586723.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 919,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916664.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "NM_001320970.2",
"protein_id": "NP_001307899.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320970.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "ENST00000699866.1",
"protein_id": "ENSP00000514663.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699866.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "ENST00000699875.1",
"protein_id": "ENSP00000514671.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2902,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699875.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "ENST00000916667.1",
"protein_id": "ENSP00000586726.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916667.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "ENST00000916672.1",
"protein_id": "ENSP00000586731.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2888,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916672.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "ENST00000968338.1",
"protein_id": "ENSP00000638397.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2935,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968338.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Glu908Lys",
"transcript": "ENST00000968339.1",
"protein_id": "ENSP00000638398.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 918,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968339.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Glu907Lys",
"transcript": "ENST00000884159.1",
"protein_id": "ENSP00000554218.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 917,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884159.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Glu907Lys",
"transcript": "ENST00000916666.1",
"protein_id": "ENSP00000586725.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 917,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 3140,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916666.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Glu907Lys",
"transcript": "ENST00000916674.1",
"protein_id": "ENSP00000586733.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 917,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916674.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Glu906Lys",
"transcript": "ENST00000884161.1",
"protein_id": "ENSP00000554220.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 916,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884161.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Glu891Lys",
"transcript": "ENST00000884160.1",
"protein_id": "ENSP00000554219.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 901,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884160.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Glu891Lys",
"transcript": "ENST00000916679.1",
"protein_id": "ENSP00000586738.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 901,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916679.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Glu879Lys",
"transcript": "NM_001320971.2",
"protein_id": "NP_001307900.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 889,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320971.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Glu879Lys",
"transcript": "ENST00000699874.1",
"protein_id": "ENSP00000514670.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 889,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699874.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Glu879Lys",
"transcript": "ENST00000968336.1",
"protein_id": "ENSP00000638395.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 889,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968336.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Glu879Lys",
"transcript": "ENST00000968337.1",
"protein_id": "ENSP00000638396.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 889,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968337.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2632G>A",
"hgvs_p": "p.Glu878Lys",
"transcript": "NM_001289063.2",
"protein_id": "NP_001275992.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 888,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289063.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2632G>A",
"hgvs_p": "p.Glu878Lys",
"transcript": "ENST00000427526.6",
"protein_id": "ENSP00000442841.1",
"transcript_support_level": 2,
"aa_start": 878,
"aa_end": null,
"aa_length": 888,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427526.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2632G>A",
"hgvs_p": "p.Glu878Lys",
"transcript": "ENST00000916665.1",
"protein_id": "ENSP00000586724.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 888,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 3088,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916665.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2629G>A",
"hgvs_p": "p.Glu877Lys",
"transcript": "ENST00000916669.1",
"protein_id": "ENSP00000586728.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 887,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2799,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916669.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2629G>A",
"hgvs_p": "p.Glu877Lys",
"transcript": "ENST00000916670.1",
"protein_id": "ENSP00000586729.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 887,
"cds_start": 2629,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916670.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2626G>A",
"hgvs_p": "p.Glu876Lys",
"transcript": "ENST00000699871.1",
"protein_id": "ENSP00000514667.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 886,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699871.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2617G>A",
"hgvs_p": "p.Glu873Lys",
"transcript": "ENST00000884157.1",
"protein_id": "ENSP00000554216.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 883,
"cds_start": 2617,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884157.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Glu872Lys",
"transcript": "ENST00000916680.1",
"protein_id": "ENSP00000586739.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 882,
"cds_start": 2614,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916680.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2587G>A",
"hgvs_p": "p.Glu863Lys",
"transcript": "ENST00000884162.1",
"protein_id": "ENSP00000554221.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 873,
"cds_start": 2587,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884162.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"transcript": "ENST00000916668.1",
"protein_id": "ENSP00000586727.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 870,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2762,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916668.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Glu858Lys",
"transcript": "ENST00000884156.1",
"protein_id": "ENSP00000554215.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 868,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884156.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2569G>A",
"hgvs_p": "p.Glu857Lys",
"transcript": "ENST00000699877.1",
"protein_id": "ENSP00000514672.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 867,
"cds_start": 2569,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2730,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699877.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2536G>A",
"hgvs_p": "p.Glu846Lys",
"transcript": "ENST00000916676.1",
"protein_id": "ENSP00000586735.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 856,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916676.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2527G>A",
"hgvs_p": "p.Glu843Lys",
"transcript": "ENST00000916671.1",
"protein_id": "ENSP00000586730.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 853,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916671.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2521G>A",
"hgvs_p": "p.Glu841Lys",
"transcript": "NM_001289064.2",
"protein_id": "NP_001275993.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 851,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289064.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2521G>A",
"hgvs_p": "p.Glu841Lys",
"transcript": "ENST00000596549.6",
"protein_id": "ENSP00000471861.2",
"transcript_support_level": 4,
"aa_start": 841,
"aa_end": null,
"aa_length": 851,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2941,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596549.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2521G>A",
"hgvs_p": "p.Glu841Lys",
"transcript": "ENST00000916678.1",
"protein_id": "ENSP00000586737.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 851,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916678.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2488G>A",
"hgvs_p": "p.Glu830Lys",
"transcript": "ENST00000884158.1",
"protein_id": "ENSP00000554217.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 840,
"cds_start": 2488,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884158.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2482G>A",
"hgvs_p": "p.Glu828Lys",
"transcript": "ENST00000916681.1",
"protein_id": "ENSP00000586740.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 838,
"cds_start": 2482,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916681.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2479G>A",
"hgvs_p": "p.Glu827Lys",
"transcript": "ENST00000916673.1",
"protein_id": "ENSP00000586732.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 837,
"cds_start": 2479,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916673.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.2464G>A",
"hgvs_p": "p.Glu822Lys",
"transcript": "ENST00000916677.1",
"protein_id": "ENSP00000586736.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 832,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916677.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Glu602Lys",
"transcript": "XM_047438833.1",
"protein_id": "XP_047294789.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 612,
"cds_start": 1804,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.2481G>A",
"hgvs_p": null,
"transcript": "ENST00000594067.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000594067.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*2786G>A",
"hgvs_p": null,
"transcript": "ENST00000596672.6",
"protein_id": "ENSP00000472331.2",
"transcript_support_level": 3,
"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": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596672.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.351G>A",
"hgvs_p": null,
"transcript": "ENST00000597146.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000597146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.3404G>A",
"hgvs_p": null,
"transcript": "ENST00000597901.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000597901.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.385G>A",
"hgvs_p": null,
"transcript": "ENST00000599322.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 620,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000599322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1322G>A",
"hgvs_p": null,
"transcript": "ENST00000601091.5",
"protein_id": "ENSP00000471836.1",
"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": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601091.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.663G>A",
"hgvs_p": null,
"transcript": "ENST00000699865.1",
"protein_id": null,
"transcript_support_level": null,
"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": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.2742G>A",
"hgvs_p": null,
"transcript": "ENST00000699867.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1049G>A",
"hgvs_p": null,
"transcript": "ENST00000699869.1",
"protein_id": "ENSP00000514665.1",
"transcript_support_level": null,
"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": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1049G>A",
"hgvs_p": null,
"transcript": "ENST00000699870.1",
"protein_id": "ENSP00000514666.1",
"transcript_support_level": null,
"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": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*3497G>A",
"hgvs_p": null,
"transcript": "ENST00000699872.1",
"protein_id": "ENSP00000514668.1",
"transcript_support_level": null,
"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": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1322G>A",
"hgvs_p": null,
"transcript": "ENST00000699873.1",
"protein_id": "ENSP00000514669.1",
"transcript_support_level": null,
"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": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.3128G>A",
"hgvs_p": null,
"transcript": "ENST00000699876.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*2222G>A",
"hgvs_p": null,
"transcript": "ENST00000699878.1",
"protein_id": "ENSP00000514673.1",
"transcript_support_level": null,
"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": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.3886G>A",
"hgvs_p": null,
"transcript": "NR_110296.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110296.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.3889G>A",
"hgvs_p": null,
"transcript": "NR_135497.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135497.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.3718G>A",
"hgvs_p": null,
"transcript": "NR_135498.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135498.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.3799G>A",
"hgvs_p": null,
"transcript": "NR_135499.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135499.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.4066G>A",
"hgvs_p": null,
"transcript": "NR_135500.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135500.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.2707G>A",
"hgvs_p": null,
"transcript": "NR_135501.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135501.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*2786G>A",
"hgvs_p": null,
"transcript": "ENST00000596672.6",
"protein_id": "ENSP00000472331.2",
"transcript_support_level": 3,
"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": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596672.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1322G>A",
"hgvs_p": null,
"transcript": "ENST00000601091.5",
"protein_id": "ENSP00000471836.1",
"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": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601091.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1049G>A",
"hgvs_p": null,
"transcript": "ENST00000699869.1",
"protein_id": "ENSP00000514665.1",
"transcript_support_level": null,
"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": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1049G>A",
"hgvs_p": null,
"transcript": "ENST00000699870.1",
"protein_id": "ENSP00000514666.1",
"transcript_support_level": null,
"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": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*3497G>A",
"hgvs_p": null,
"transcript": "ENST00000699872.1",
"protein_id": "ENSP00000514668.1",
"transcript_support_level": null,
"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": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*1322G>A",
"hgvs_p": null,
"transcript": "ENST00000699873.1",
"protein_id": "ENSP00000514669.1",
"transcript_support_level": null,
"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": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*2222G>A",
"hgvs_p": null,
"transcript": "ENST00000699878.1",
"protein_id": "ENSP00000514673.1",
"transcript_support_level": null,
"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": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699878.1"
}
],
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"dbsnp": "rs144236881",
"frequency_reference_population": 0.000036551653,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.00001847,
"gnomad_genomes_af": 0.000210081,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010150730609893799,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.235,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000234.3",
"gene_symbol": "LIG1",
"hgnc_id": 6598,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2725G>A",
"hgvs_p": "p.Glu909Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}