← 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: 19-48117779-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48117779&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "LIG1",
"hgnc_id": 6598,
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000234.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 715563,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2442,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_000234.3",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263274.12",
"protein_coding": true,
"protein_id": "NP_000225.1",
"strand": false,
"transcript": "NM_000234.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2442,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000263274.12",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000234.3",
"protein_coding": true,
"protein_id": "ENSP00000263274.6",
"strand": false,
"transcript": "ENST00000263274.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000594759.5",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1039G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471380.1",
"strand": false,
"transcript": "ENST00000594759.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000594759.5",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1039G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471380.1",
"strand": false,
"transcript": "ENST00000594759.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 953,
"aa_ref": "A",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2544,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916675.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2544G>C",
"hgvs_p": "p.Ala848Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586734.1",
"strand": false,
"transcript": "ENST00000916675.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2442,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000699868.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514664.1",
"strand": false,
"transcript": "ENST00000699868.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2442,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000884164.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554222.1",
"strand": false,
"transcript": "ENST00000884164.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 919,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3433,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2442,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916664.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586723.1",
"strand": false,
"transcript": "ENST00000916664.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001320970.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307899.1",
"strand": false,
"transcript": "NM_001320970.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 2612,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000699866.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514663.1",
"strand": false,
"transcript": "ENST00000699866.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2619,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000699875.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514671.1",
"strand": false,
"transcript": "ENST00000699875.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916667.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586726.1",
"strand": false,
"transcript": "ENST00000916667.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": 2605,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916672.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586731.1",
"strand": false,
"transcript": "ENST00000916672.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 2652,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000968338.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638397.1",
"strand": false,
"transcript": "ENST00000968338.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 918,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3041,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2439,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000968339.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2439G>C",
"hgvs_p": "p.Ala813Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638398.1",
"strand": false,
"transcript": "ENST00000968339.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2436,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000884159.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2436G>C",
"hgvs_p": "p.Ala812Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554218.1",
"strand": false,
"transcript": "ENST00000884159.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3377,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2436,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916666.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2436G>C",
"hgvs_p": "p.Ala812Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586725.1",
"strand": false,
"transcript": "ENST00000916666.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2754,
"cds_start": 2436,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916674.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2436G>C",
"hgvs_p": "p.Ala812Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586733.1",
"strand": false,
"transcript": "ENST00000916674.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2433,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000884161.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2433G>C",
"hgvs_p": "p.Ala811Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554220.1",
"strand": false,
"transcript": "ENST00000884161.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 901,
"aa_ref": "A",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2548,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2388,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884160.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2388G>C",
"hgvs_p": "p.Ala796Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554219.1",
"strand": false,
"transcript": "ENST00000884160.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 901,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2442,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000916679.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2442G>C",
"hgvs_p": "p.Ala814Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586738.1",
"strand": false,
"transcript": "ENST00000916679.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 889,
"aa_ref": "A",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2352,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001320971.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Ala784Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307900.1",
"strand": false,
"transcript": "NM_001320971.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 889,
"aa_ref": "A",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2352,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000699874.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Ala784Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514670.1",
"strand": false,
"transcript": "ENST00000699874.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 889,
"aa_ref": "A",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2352,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000968336.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Ala784Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638395.1",
"strand": false,
"transcript": "ENST00000968336.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 889,
"aa_ref": "A",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2352,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000968337.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2352G>C",
"hgvs_p": "p.Ala784Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638396.1",
"strand": false,
"transcript": "ENST00000968337.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 888,
"aa_ref": "A",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2349,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001289063.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2349G>C",
"hgvs_p": "p.Ala783Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275992.1",
"strand": false,
"transcript": "NM_001289063.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 888,
"aa_ref": "A",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2349,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000427526.6",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2349G>C",
"hgvs_p": "p.Ala783Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442841.1",
"strand": false,
"transcript": "ENST00000427526.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 888,
"aa_ref": "A",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 2805,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2349,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000916665.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2349G>C",
"hgvs_p": "p.Ala783Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586724.1",
"strand": false,
"transcript": "ENST00000916665.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 887,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2346,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000916669.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2346G>C",
"hgvs_p": "p.Ala782Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586728.1",
"strand": false,
"transcript": "ENST00000916669.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 887,
"aa_ref": "A",
"aa_start": 782,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2346,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000916670.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2346G>C",
"hgvs_p": "p.Ala782Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586729.1",
"strand": false,
"transcript": "ENST00000916670.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 886,
"aa_ref": "A",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 2503,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2343,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000699871.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2343G>C",
"hgvs_p": "p.Ala781Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514667.1",
"strand": false,
"transcript": "ENST00000699871.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 883,
"aa_ref": "A",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2334,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884157.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2334G>C",
"hgvs_p": "p.Ala778Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554216.1",
"strand": false,
"transcript": "ENST00000884157.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 882,
"aa_ref": "A",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2331,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000916680.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2331G>C",
"hgvs_p": "p.Ala777Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586739.1",
"strand": false,
"transcript": "ENST00000916680.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 873,
"aa_ref": "A",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2304,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000884162.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2304G>C",
"hgvs_p": "p.Ala768Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554221.1",
"strand": false,
"transcript": "ENST00000884162.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 868,
"aa_ref": "A",
"aa_start": 763,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2289,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884156.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2289G>C",
"hgvs_p": "p.Ala763Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554215.1",
"strand": false,
"transcript": "ENST00000884156.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 867,
"aa_ref": "A",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2286,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000699877.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2286G>C",
"hgvs_p": "p.Ala762Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514672.1",
"strand": false,
"transcript": "ENST00000699877.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 856,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2253,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000916676.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2253G>C",
"hgvs_p": "p.Ala751Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586735.1",
"strand": false,
"transcript": "ENST00000916676.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 853,
"aa_ref": "A",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2562,
"cds_start": 2244,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000916671.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2244G>C",
"hgvs_p": "p.Ala748Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586730.1",
"strand": false,
"transcript": "ENST00000916671.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2238,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001289064.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2238G>C",
"hgvs_p": "p.Ala746Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275993.1",
"strand": false,
"transcript": "NM_001289064.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 2658,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2238,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000596549.6",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2238G>C",
"hgvs_p": "p.Ala746Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471861.2",
"strand": false,
"transcript": "ENST00000596549.6",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2238,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000916678.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2238G>C",
"hgvs_p": "p.Ala746Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586737.1",
"strand": false,
"transcript": "ENST00000916678.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2205,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884158.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2205G>C",
"hgvs_p": "p.Ala735Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554217.1",
"strand": false,
"transcript": "ENST00000884158.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 838,
"aa_ref": "A",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 2326,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2199,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000916681.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2199G>C",
"hgvs_p": "p.Ala733Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586740.1",
"strand": false,
"transcript": "ENST00000916681.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2196,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000916673.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Ala732Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586732.1",
"strand": false,
"transcript": "ENST00000916673.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 832,
"aa_ref": "A",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2499,
"cds_start": 2181,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000916677.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2181G>C",
"hgvs_p": "p.Ala727Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586736.1",
"strand": false,
"transcript": "ENST00000916677.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 612,
"aa_ref": "A",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1521,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047438833.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.1521G>C",
"hgvs_p": "p.Ala507Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294789.1",
"strand": false,
"transcript": "XM_047438833.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 870,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": null,
"cds_end": null,
"cds_length": 2613,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916668.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "c.2436+1358G>C",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586727.1",
"strand": false,
"transcript": "ENST00000916668.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000594067.5",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.2198G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000594067.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000596672.6",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*2503G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472331.2",
"strand": false,
"transcript": "ENST00000596672.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000597901.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.3121G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000597901.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 620,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000599322.5",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.102G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000599322.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000601091.5",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1039G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471836.1",
"strand": false,
"transcript": "ENST00000601091.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000699865.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.380G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699865.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000699867.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.2459G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699867.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699869.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*766G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514665.1",
"strand": false,
"transcript": "ENST00000699869.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699870.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*766G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514666.1",
"strand": false,
"transcript": "ENST00000699870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000699872.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*3214G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514668.1",
"strand": false,
"transcript": "ENST00000699872.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000699873.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1039G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514669.1",
"strand": false,
"transcript": "ENST00000699873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000699876.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.2845G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000699876.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4205,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000699878.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1939G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514673.1",
"strand": false,
"transcript": "ENST00000699878.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NR_110296.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.3603G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_110296.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NR_135497.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.3606G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135497.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NR_135498.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.3435G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135498.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NR_135499.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.3516G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135499.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NR_135500.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.3783G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135500.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NR_135501.2",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.2424G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135501.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000596672.6",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*2503G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472331.2",
"strand": false,
"transcript": "ENST00000596672.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000601091.5",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1039G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471836.1",
"strand": false,
"transcript": "ENST00000601091.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699869.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*766G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514665.1",
"strand": false,
"transcript": "ENST00000699869.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000699870.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*766G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514666.1",
"strand": false,
"transcript": "ENST00000699870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000699872.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*3214G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514668.1",
"strand": false,
"transcript": "ENST00000699872.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000699873.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1039G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514669.1",
"strand": false,
"transcript": "ENST00000699873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4205,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000699878.1",
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"hgvs_c": "n.*1939G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514673.1",
"strand": false,
"transcript": "ENST00000699878.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs13436",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.44414893,
"gene_hgnc_id": 6598,
"gene_symbol": "LIG1",
"gnomad_exomes_ac": 643367,
"gnomad_exomes_af": 0.440977,
"gnomad_exomes_homalt": 145279,
"gnomad_genomes_ac": 72196,
"gnomad_genomes_af": 0.474568,
"gnomad_genomes_homalt": 17579,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 162858,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.688,
"pos": 48117779,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000234.3"
}
]
}