← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-154588582-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154588582&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154588582,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000368474.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2854A>T",
"hgvs_p": "p.Lys952*",
"transcript": "NM_001111.5",
"protein_id": "NP_001102.3",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "ENST00000368474.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2854A>T",
"hgvs_p": "p.Lys952*",
"transcript": "ENST00000368474.9",
"protein_id": "ENSP00000357459.4",
"transcript_support_level": 1,
"aa_start": 952,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "NM_001111.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000368471.8",
"protein_id": "ENSP00000357456.3",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 6519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2884A>T",
"hgvs_p": "p.Lys962*",
"transcript": "ENST00000649724.2",
"protein_id": "ENSP00000497932.2",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2881A>T",
"hgvs_p": "p.Lys961*",
"transcript": "NM_001365045.1",
"protein_id": "NP_001351974.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2881,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2883,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2836A>T",
"hgvs_p": "p.Lys946*",
"transcript": "ENST00000713626.1",
"protein_id": "ENSP00000518924.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1220,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 6972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2776A>T",
"hgvs_p": "p.Lys926*",
"transcript": "NM_015840.4",
"protein_id": "NP_056655.3",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1200,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 6532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2776A>T",
"hgvs_p": "p.Lys926*",
"transcript": "ENST00000529168.2",
"protein_id": "ENSP00000431794.2",
"transcript_support_level": 5,
"aa_start": 926,
"aa_end": null,
"aa_length": 1200,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2737A>T",
"hgvs_p": "p.Lys913*",
"transcript": "ENST00000680270.2",
"protein_id": "ENSP00000505532.2",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2719A>T",
"hgvs_p": "p.Lys907*",
"transcript": "NM_015841.4",
"protein_id": "NP_056656.3",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2854A>T",
"hgvs_p": "p.Lys952*",
"transcript": "ENST00000680305.1",
"protein_id": "ENSP00000506312.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2506A>T",
"hgvs_p": "p.Lys836*",
"transcript": "ENST00000681056.2",
"protein_id": "ENSP00000506234.2",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 6450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "NM_001025107.3",
"protein_id": "NP_001020278.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 6532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "NM_001193495.2",
"protein_id": "NP_001180424.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "NM_001365046.1",
"protein_id": "NP_001351975.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 6323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "NM_001365047.1",
"protein_id": "NP_001351976.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 6474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "NM_001365048.1",
"protein_id": "NP_001351977.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000471068.3",
"protein_id": "ENSP00000518935.1",
"transcript_support_level": 4,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000494866.2",
"protein_id": "ENSP00000518936.1",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000648231.2",
"protein_id": "ENSP00000497555.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3405,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000648311.1",
"protein_id": "ENSP00000498137.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3013,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000648871.2",
"protein_id": "ENSP00000497793.2",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000649022.2",
"protein_id": "ENSP00000496896.2",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000649749.1",
"protein_id": "ENSP00000497210.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000681683.1",
"protein_id": "ENSP00000506666.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2812,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000713632.1",
"protein_id": "ENSP00000518930.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1969A>T",
"hgvs_p": "p.Lys657*",
"transcript": "ENST00000713633.1",
"protein_id": "ENSP00000518931.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 931,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2909,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1957A>T",
"hgvs_p": "p.Lys653*",
"transcript": "ENST00000713630.1",
"protein_id": "ENSP00000518928.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 927,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 6512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1912A>T",
"hgvs_p": "p.Lys638*",
"transcript": "ENST00000679899.1",
"protein_id": "ENSP00000505996.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 912,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 6788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1912A>T",
"hgvs_p": "p.Lys638*",
"transcript": "ENST00000713634.1",
"protein_id": "ENSP00000518932.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 912,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1891A>T",
"hgvs_p": "p.Lys631*",
"transcript": "NM_001365049.1",
"protein_id": "NP_001351978.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 905,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1891A>T",
"hgvs_p": "p.Lys631*",
"transcript": "ENST00000526905.3",
"protein_id": "ENSP00000518934.1",
"transcript_support_level": 3,
"aa_start": 631,
"aa_end": null,
"aa_length": 905,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1774A>T",
"hgvs_p": "p.Lys592*",
"transcript": "ENST00000713631.1",
"protein_id": "ENSP00000518929.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 866,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 6316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2872A>T",
"hgvs_p": "p.Lys958*",
"transcript": "XM_011509062.2",
"protein_id": "XP_011507364.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2872,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2803A>T",
"hgvs_p": "p.Lys935*",
"transcript": "XM_047428340.1",
"protein_id": "XP_047284296.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2803,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 2805,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2794A>T",
"hgvs_p": "p.Lys932*",
"transcript": "XM_047428386.1",
"protein_id": "XP_047284342.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2794,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2476A>T",
"hgvs_p": "p.Lys826*",
"transcript": "XM_047428405.1",
"protein_id": "XP_047284361.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2476,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2656,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2398A>T",
"hgvs_p": "p.Lys800*",
"transcript": "XM_047428441.1",
"protein_id": "XP_047284397.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2398,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1891A>T",
"hgvs_p": "p.Lys631*",
"transcript": "XM_011509061.3",
"protein_id": "XP_011507363.2",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 905,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.21A>T",
"hgvs_p": null,
"transcript": "ENST00000534279.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.2839A>T",
"hgvs_p": null,
"transcript": "ENST00000647682.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*329A>T",
"hgvs_p": null,
"transcript": "ENST00000648714.2",
"protein_id": "ENSP00000497434.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.2890A>T",
"hgvs_p": null,
"transcript": "ENST00000649021.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2454A>T",
"hgvs_p": null,
"transcript": "ENST00000649042.2",
"protein_id": "ENSP00000497790.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.2854A>T",
"hgvs_p": null,
"transcript": "ENST00000649408.2",
"protein_id": "ENSP00000497386.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*1086A>T",
"hgvs_p": null,
"transcript": "ENST00000679375.1",
"protein_id": "ENSP00000505887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.3307A>T",
"hgvs_p": null,
"transcript": "ENST00000679465.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.2890A>T",
"hgvs_p": null,
"transcript": "ENST00000679805.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2376A>T",
"hgvs_p": null,
"transcript": "ENST00000681235.1",
"protein_id": "ENSP00000506606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.2114A>T",
"hgvs_p": null,
"transcript": "ENST00000681429.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.3307A>T",
"hgvs_p": null,
"transcript": "ENST00000681786.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2454A>T",
"hgvs_p": null,
"transcript": "ENST00000681901.1",
"protein_id": "ENSP00000504883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2585A>T",
"hgvs_p": null,
"transcript": "ENST00000713628.1",
"protein_id": "ENSP00000518926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*1164A>T",
"hgvs_p": null,
"transcript": "ENST00000713629.1",
"protein_id": "ENSP00000518927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.1969A>T",
"hgvs_p": null,
"transcript": "ENST00000713635.1",
"protein_id": "ENSP00000518933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*329A>T",
"hgvs_p": null,
"transcript": "ENST00000648714.2",
"protein_id": "ENSP00000497434.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2454A>T",
"hgvs_p": null,
"transcript": "ENST00000649042.2",
"protein_id": "ENSP00000497790.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*1086A>T",
"hgvs_p": null,
"transcript": "ENST00000679375.1",
"protein_id": "ENSP00000505887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2376A>T",
"hgvs_p": null,
"transcript": "ENST00000681235.1",
"protein_id": "ENSP00000506606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2454A>T",
"hgvs_p": null,
"transcript": "ENST00000681901.1",
"protein_id": "ENSP00000504883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*2585A>T",
"hgvs_p": null,
"transcript": "ENST00000713628.1",
"protein_id": "ENSP00000518926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "n.*1164A>T",
"hgvs_p": null,
"transcript": "ENST00000713629.1",
"protein_id": "ENSP00000518927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"dbsnp": "rs121912422",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5299999713897705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.356,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000368474.9",
"gene_symbol": "ADAR",
"hgnc_id": 225,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2854A>T",
"hgvs_p": "p.Lys952*"
}
],
"clinvar_disease": "Symmetrical dyschromatosis of extremities",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Symmetrical dyschromatosis of extremities",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}