← 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: 3-49510539-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49510539&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49510539,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004393.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_004393.6",
"protein_id": "NP_004384.5",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000308775.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000308775.7",
"protein_id": "ENSP00000312435.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_004393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "n.316G>A",
"hgvs_p": null,
"transcript": "ENST00000479935.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001165928.4",
"protein_id": "NP_001159400.3",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177634.3",
"protein_id": "NP_001171105.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177635.3",
"protein_id": "NP_001171106.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177636.3",
"protein_id": "NP_001171107.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177637.3",
"protein_id": "NP_001171108.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177638.3",
"protein_id": "NP_001171109.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177639.3",
"protein_id": "NP_001171110.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177640.3",
"protein_id": "NP_001171111.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177641.3",
"protein_id": "NP_001171112.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177642.3",
"protein_id": "NP_001171113.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177643.3",
"protein_id": "NP_001171114.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001177644.3",
"protein_id": "NP_001171115.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438880.1",
"protein_id": "NP_001425809.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438881.1",
"protein_id": "NP_001425810.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438882.1",
"protein_id": "NP_001425811.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438883.1",
"protein_id": "NP_001425812.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 5529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438884.1",
"protein_id": "NP_001425813.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 5774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438885.1",
"protein_id": "NP_001425814.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438886.1",
"protein_id": "NP_001425815.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438887.1",
"protein_id": "NP_001425816.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 5957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "NM_001438888.1",
"protein_id": "NP_001425817.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000418588.6",
"protein_id": "ENSP00000405859.2",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000421560.6",
"protein_id": "ENSP00000412067.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000428779.7",
"protein_id": "ENSP00000401382.3",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000430636.2",
"protein_id": "ENSP00000401805.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000431960.6",
"protein_id": "ENSP00000388833.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000435508.8",
"protein_id": "ENSP00000415321.4",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000452060.7",
"protein_id": "ENSP00000410145.3",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000452317.6",
"protein_id": "ENSP00000387859.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000466701.2",
"protein_id": "ENSP00000513216.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000469139.2",
"protein_id": "ENSP00000501165.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000496474.2",
"protein_id": "ENSP00000513217.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000673708.1",
"protein_id": "ENSP00000501140.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "ENST00000697271.1",
"protein_id": "ENSP00000513218.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447542.1",
"protein_id": "XP_047303498.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447543.1",
"protein_id": "XP_047303499.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447545.1",
"protein_id": "XP_047303501.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447546.1",
"protein_id": "XP_047303502.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447549.1",
"protein_id": "XP_047303505.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 5843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447550.1",
"protein_id": "XP_047303506.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447551.1",
"protein_id": "XP_047303507.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447552.1",
"protein_id": "XP_047303508.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447553.1",
"protein_id": "XP_047303509.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447555.1",
"protein_id": "XP_047303511.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447557.1",
"protein_id": "XP_047303513.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447558.1",
"protein_id": "XP_047303514.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447559.1",
"protein_id": "XP_047303515.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447560.1",
"protein_id": "XP_047303516.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447561.1",
"protein_id": "XP_047303517.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 5726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447562.1",
"protein_id": "XP_047303518.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447563.1",
"protein_id": "XP_047303519.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447564.1",
"protein_id": "XP_047303520.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447565.1",
"protein_id": "XP_047303521.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447566.1",
"protein_id": "XP_047303522.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 5806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447567.1",
"protein_id": "XP_047303523.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447568.1",
"protein_id": "XP_047303524.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447569.1",
"protein_id": "XP_047303525.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 5704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447570.1",
"protein_id": "XP_047303526.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447571.1",
"protein_id": "XP_047303527.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447572.1",
"protein_id": "XP_047303528.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447573.1",
"protein_id": "XP_047303529.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447574.1",
"protein_id": "XP_047303530.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447575.1",
"protein_id": "XP_047303531.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447576.1",
"protein_id": "XP_047303532.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447577.1",
"protein_id": "XP_047303533.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 5682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447578.1",
"protein_id": "XP_047303534.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys",
"transcript": "XM_047447579.1",
"protein_id": "XP_047303535.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 895,
"cds_start": 5,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "n.379G>A",
"hgvs_p": null,
"transcript": "ENST00000475424.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "n.165+84G>A",
"hgvs_p": null,
"transcript": "ENST00000461492.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"dbsnp": "rs781269339",
"frequency_reference_population": 6.8448986e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8449e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2242317795753479,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.1147,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.87,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004393.6",
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2Lys"
}
],
"clinvar_disease": " type A9,Autosomal recessive limb-girdle muscular dystrophy type 2P,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2P;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}