← 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: 13-108209755-C-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=108209755&ref=C&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 108209755,
"ref": "C",
"alt": "CGA",
"effect": "frameshift_variant",
"transcript": "ENST00000442234.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_206937.2",
"protein_id": "NP_996820.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": "ENST00000442234.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000442234.6",
"protein_id": "ENSP00000402030.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": "NM_206937.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000405925.2",
"protein_id": "ENSP00000385955.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1548_1549dupTC",
"hgvs_p": "p.Arg517fs",
"transcript": "NM_001352604.2",
"protein_id": "NP_001339533.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 923,
"cds_start": 1549,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001098268.2",
"protein_id": "NP_001091738.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001352598.2",
"protein_id": "NP_001339527.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001352599.2",
"protein_id": "NP_001339528.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001352600.2",
"protein_id": "NP_001339529.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001352601.2",
"protein_id": "NP_001339530.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001352602.2",
"protein_id": "NP_001339531.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001352603.1",
"protein_id": "NP_001339532.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_001379095.1",
"protein_id": "NP_001366024.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "NM_002312.3",
"protein_id": "NP_002303.2",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000611712.4",
"protein_id": "ENSP00000484288.1",
"transcript_support_level": 4,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000685338.1",
"protein_id": "ENSP00000510567.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000686095.1",
"protein_id": "ENSP00000509942.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000686204.1",
"protein_id": "ENSP00000509685.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 4564,
"cdna_end": null,
"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000686913.1",
"protein_id": "ENSP00000509299.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000686926.1",
"protein_id": "ENSP00000509122.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000687164.1",
"protein_id": "ENSP00000508512.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000687822.1",
"protein_id": "ENSP00000509344.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 5799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000688396.1",
"protein_id": "ENSP00000509564.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000688455.1",
"protein_id": "ENSP00000509304.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000688529.1",
"protein_id": "ENSP00000509906.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000688595.1",
"protein_id": "ENSP00000509502.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000692222.1",
"protein_id": "ENSP00000509226.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 4462,
"cdna_end": null,
"cdna_length": 6758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1512_1513dupTC",
"hgvs_p": "p.Arg505fs",
"transcript": "ENST00000693040.1",
"protein_id": "ENSP00000510014.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 911,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1311_1312dupTC",
"hgvs_p": "p.Arg438fs",
"transcript": "NM_001330595.2",
"protein_id": "NP_001317524.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 844,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1311_1312dupTC",
"hgvs_p": "p.Arg438fs",
"transcript": "ENST00000614526.2",
"protein_id": "ENSP00000480814.1",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 844,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1311_1312dupTC",
"hgvs_p": "p.Arg438fs",
"transcript": "ENST00000689762.1",
"protein_id": "ENSP00000508867.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 844,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1311_1312dupTC",
"hgvs_p": "p.Arg438fs",
"transcript": "ENST00000690127.1",
"protein_id": "ENSP00000509468.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 844,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"dbsnp": "rs759838407",
"frequency_reference_population": 0.0000037175228,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342032,
"gnomad_genomes_af": 0.00000657341,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.825,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000442234.6",
"gene_symbol": "LIG4",
"hgnc_id": 6601,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1512_1513dupTC",
"hgvs_p": "p.Arg505fs"
}
],
"clinvar_disease": "DNA ligase IV deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "DNA ligase IV deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}