← 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: 13-108209565-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=108209565&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 108209565,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000442234.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_206937.2",
"protein_id": "NP_996820.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": "ENST00000442234.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000442234.6",
"protein_id": "ENSP00000402030.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": "NM_206937.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000405925.2",
"protein_id": "ENSP00000385955.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1740T>C",
"hgvs_p": "p.Asp580Asp",
"transcript": "NM_001352604.2",
"protein_id": "NP_001339533.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 923,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001098268.2",
"protein_id": "NP_001091738.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001352598.2",
"protein_id": "NP_001339527.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001352599.2",
"protein_id": "NP_001339528.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001352600.2",
"protein_id": "NP_001339529.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001352601.2",
"protein_id": "NP_001339530.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001352602.2",
"protein_id": "NP_001339531.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001352603.1",
"protein_id": "NP_001339532.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_001379095.1",
"protein_id": "NP_001366024.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "NM_002312.3",
"protein_id": "NP_002303.2",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000611712.4",
"protein_id": "ENSP00000484288.1",
"transcript_support_level": 4,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000685338.1",
"protein_id": "ENSP00000510567.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000686095.1",
"protein_id": "ENSP00000509942.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000686204.1",
"protein_id": "ENSP00000509685.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 4755,
"cdna_end": null,
"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000686913.1",
"protein_id": "ENSP00000509299.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000686926.1",
"protein_id": "ENSP00000509122.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000687164.1",
"protein_id": "ENSP00000508512.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000687822.1",
"protein_id": "ENSP00000509344.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3696,
"cdna_end": null,
"cdna_length": 5799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000688396.1",
"protein_id": "ENSP00000509564.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000688455.1",
"protein_id": "ENSP00000509304.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000688529.1",
"protein_id": "ENSP00000509906.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000688595.1",
"protein_id": "ENSP00000509502.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000692222.1",
"protein_id": "ENSP00000509226.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 4653,
"cdna_end": null,
"cdna_length": 6758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp",
"transcript": "ENST00000693040.1",
"protein_id": "ENSP00000510014.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 911,
"cds_start": 1704,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1503T>C",
"hgvs_p": "p.Asp501Asp",
"transcript": "NM_001330595.2",
"protein_id": "NP_001317524.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 844,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1503T>C",
"hgvs_p": "p.Asp501Asp",
"transcript": "ENST00000614526.2",
"protein_id": "ENSP00000480814.1",
"transcript_support_level": 2,
"aa_start": 501,
"aa_end": null,
"aa_length": 844,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1503T>C",
"hgvs_p": "p.Asp501Asp",
"transcript": "ENST00000689762.1",
"protein_id": "ENSP00000508867.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 844,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.1503T>C",
"hgvs_p": "p.Asp501Asp",
"transcript": "ENST00000690127.1",
"protein_id": "ENSP00000509468.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 844,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"dbsnp": "rs1805386",
"frequency_reference_population": 0.1550793,
"hom_count_reference_population": 21105,
"allele_count_reference_population": 250289,
"gnomad_exomes_af": 0.157178,
"gnomad_genomes_af": 0.134915,
"gnomad_exomes_ac": 229760,
"gnomad_genomes_ac": 20529,
"gnomad_exomes_homalt": 19447,
"gnomad_genomes_homalt": 1658,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.187,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000442234.6",
"gene_symbol": "LIG4",
"hgnc_id": 6601,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Asp568Asp"
}
],
"clinvar_disease": "DNA ligase IV deficiency,Severe combined immunodeficiency due to DCLRE1C deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:10",
"phenotype_combined": "not specified|Severe combined immunodeficiency due to DCLRE1C deficiency|DNA ligase IV deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}