← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 13-98800361-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98800361&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 98800361,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366681.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5843G>A",
"hgvs_p": "p.Arg1948Gln",
"transcript": "NM_001366683.2",
"protein_id": "NP_001353612.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5843,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682017.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366683.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5843G>A",
"hgvs_p": "p.Arg1948Gln",
"transcript": "ENST00000682017.1",
"protein_id": "ENSP00000507034.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5843,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366683.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682017.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5948G>A",
"hgvs_p": "p.Arg1983Gln",
"transcript": "NM_001366681.2",
"protein_id": "NP_001353610.1",
"transcript_support_level": null,
"aa_start": 1983,
"aa_end": null,
"aa_length": 2127,
"cds_start": 5948,
"cds_end": null,
"cds_length": 6384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366681.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5912G>A",
"hgvs_p": "p.Arg1971Gln",
"transcript": "NM_001366684.2",
"protein_id": "NP_001353613.1",
"transcript_support_level": null,
"aa_start": 1971,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5912,
"cds_end": null,
"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366684.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5879G>A",
"hgvs_p": "p.Arg1960Gln",
"transcript": "NM_001366682.2",
"protein_id": "NP_001353611.1",
"transcript_support_level": null,
"aa_start": 1960,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5879,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366682.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5843G>A",
"hgvs_p": "p.Arg1948Gln",
"transcript": "ENST00000903387.1",
"protein_id": "ENSP00000573446.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5843,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903387.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5822G>A",
"hgvs_p": "p.Arg1941Gln",
"transcript": "NM_001366677.2",
"protein_id": "NP_001353606.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 2085,
"cds_start": 5822,
"cds_end": null,
"cds_length": 6258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366677.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5810G>A",
"hgvs_p": "p.Arg1937Gln",
"transcript": "ENST00000448493.7",
"protein_id": "ENSP00000401958.4",
"transcript_support_level": 5,
"aa_start": 1937,
"aa_end": null,
"aa_length": 2081,
"cds_start": 5810,
"cds_end": null,
"cds_length": 6246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448493.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5921G>A",
"hgvs_p": "p.Arg1974Gln",
"transcript": "NM_001366678.2",
"protein_id": "NP_001353607.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5921,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366678.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5915G>A",
"hgvs_p": "p.Arg1972Gln",
"transcript": "ENST00000703211.1",
"protein_id": "ENSP00000515238.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2078,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703211.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5786G>A",
"hgvs_p": "p.Arg1929Gln",
"transcript": "NM_001366679.2",
"protein_id": "NP_001353608.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5786,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366679.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5786G>A",
"hgvs_p": "p.Arg1929Gln",
"transcript": "ENST00000903390.1",
"protein_id": "ENSP00000573449.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2073,
"cds_start": 5786,
"cds_end": null,
"cds_length": 6222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903390.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5888G>A",
"hgvs_p": "p.Arg1963Gln",
"transcript": "NM_015296.3",
"protein_id": "NP_056111.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5888,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015296.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5888G>A",
"hgvs_p": "p.Arg1963Gln",
"transcript": "ENST00000652315.1",
"protein_id": "ENSP00000498761.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5888,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652315.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5885G>A",
"hgvs_p": "p.Arg1962Gln",
"transcript": "NM_001130048.2",
"protein_id": "NP_001123520.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5885,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130048.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5885G>A",
"hgvs_p": "p.Arg1962Gln",
"transcript": "ENST00000376460.5",
"protein_id": "ENSP00000365643.1",
"transcript_support_level": 5,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2068,
"cds_start": 5885,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376460.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5750G>A",
"hgvs_p": "p.Arg1917Gln",
"transcript": "NM_001366680.2",
"protein_id": "NP_001353609.1",
"transcript_support_level": null,
"aa_start": 1917,
"aa_end": null,
"aa_length": 2061,
"cds_start": 5750,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366680.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5750G>A",
"hgvs_p": "p.Arg1917Gln",
"transcript": "ENST00000449796.6",
"protein_id": "ENSP00000403528.2",
"transcript_support_level": 5,
"aa_start": 1917,
"aa_end": null,
"aa_length": 2061,
"cds_start": 5750,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449796.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5852G>A",
"hgvs_p": "p.Arg1951Gln",
"transcript": "NM_001366676.2",
"protein_id": "NP_001353605.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2057,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366676.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5846G>A",
"hgvs_p": "p.Arg1949Gln",
"transcript": "ENST00000703210.1",
"protein_id": "ENSP00000515237.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2055,
"cds_start": 5846,
"cds_end": null,
"cds_length": 6168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703210.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5819G>A",
"hgvs_p": "p.Arg1940Gln",
"transcript": "NM_001318849.2",
"protein_id": "NP_001305778.1",
"transcript_support_level": null,
"aa_start": 1940,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5819,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318849.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5678G>A",
"hgvs_p": "p.Arg1893Gln",
"transcript": "ENST00000903388.1",
"protein_id": "ENSP00000573447.1",
"transcript_support_level": null,
"aa_start": 1893,
"aa_end": null,
"aa_length": 2037,
"cds_start": 5678,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903388.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5597G>A",
"hgvs_p": "p.Arg1866Gln",
"transcript": "ENST00000703216.1",
"protein_id": "ENSP00000515240.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2010,
"cds_start": 5597,
"cds_end": null,
"cds_length": 6033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703216.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5201G>A",
"hgvs_p": "p.Arg1734Gln",
"transcript": "ENST00000903389.1",
"protein_id": "ENSP00000573448.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 1878,
"cds_start": 5201,
"cds_end": null,
"cds_length": 5637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903389.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524Gln",
"transcript": "ENST00000400228.6",
"protein_id": "ENSP00000383087.2",
"transcript_support_level": 5,
"aa_start": 524,
"aa_end": null,
"aa_length": 668,
"cds_start": 1571,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400228.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"transcript": "ENST00000419908.5",
"protein_id": "ENSP00000388193.1",
"transcript_support_level": 3,
"aa_start": 365,
"aa_end": null,
"aa_length": 388,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419908.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5990G>A",
"hgvs_p": "p.Arg1997Gln",
"transcript": "XM_006719922.2",
"protein_id": "XP_006719985.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2141,
"cds_start": 5990,
"cds_end": null,
"cds_length": 6426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719922.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5987G>A",
"hgvs_p": "p.Arg1996Gln",
"transcript": "XM_017020503.2",
"protein_id": "XP_016875992.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2140,
"cds_start": 5987,
"cds_end": null,
"cds_length": 6423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020503.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5957G>A",
"hgvs_p": "p.Arg1986Gln",
"transcript": "XM_006719924.3",
"protein_id": "XP_006719987.1",
"transcript_support_level": null,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2130,
"cds_start": 5957,
"cds_end": null,
"cds_length": 6393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719924.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5954G>A",
"hgvs_p": "p.Arg1985Gln",
"transcript": "XM_006719925.2",
"protein_id": "XP_006719988.1",
"transcript_support_level": null,
"aa_start": 1985,
"aa_end": null,
"aa_length": 2129,
"cds_start": 5954,
"cds_end": null,
"cds_length": 6390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719925.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5945G>A",
"hgvs_p": "p.Arg1982Gln",
"transcript": "XM_017020504.2",
"protein_id": "XP_016875993.1",
"transcript_support_level": null,
"aa_start": 1982,
"aa_end": null,
"aa_length": 2126,
"cds_start": 5945,
"cds_end": null,
"cds_length": 6381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020504.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5933G>A",
"hgvs_p": "p.Arg1978Gln",
"transcript": "XM_047430231.1",
"protein_id": "XP_047286187.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 2122,
"cds_start": 5933,
"cds_end": null,
"cds_length": 6369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430231.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5921G>A",
"hgvs_p": "p.Arg1974Gln",
"transcript": "XM_047430232.1",
"protein_id": "XP_047286188.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 2118,
"cds_start": 5921,
"cds_end": null,
"cds_length": 6357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430232.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5918G>A",
"hgvs_p": "p.Arg1973Gln",
"transcript": "XM_017020505.2",
"protein_id": "XP_016875994.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 2117,
"cds_start": 5918,
"cds_end": null,
"cds_length": 6354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020505.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5915G>A",
"hgvs_p": "p.Arg1972Gln",
"transcript": "XM_047430234.1",
"protein_id": "XP_047286190.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2116,
"cds_start": 5915,
"cds_end": null,
"cds_length": 6351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430234.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5894G>A",
"hgvs_p": "p.Arg1965Gln",
"transcript": "XM_017020506.2",
"protein_id": "XP_016875995.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5894,
"cds_end": null,
"cds_length": 6330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020506.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5888G>A",
"hgvs_p": "p.Arg1963Gln",
"transcript": "XM_006719931.4",
"protein_id": "XP_006719994.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 2107,
"cds_start": 5888,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719931.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5885G>A",
"hgvs_p": "p.Arg1962Gln",
"transcript": "XM_006719932.2",
"protein_id": "XP_006719995.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 2106,
"cds_start": 5885,
"cds_end": null,
"cds_length": 6321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719932.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5876G>A",
"hgvs_p": "p.Arg1959Gln",
"transcript": "XM_017020507.2",
"protein_id": "XP_016875996.1",
"transcript_support_level": null,
"aa_start": 1959,
"aa_end": null,
"aa_length": 2103,
"cds_start": 5876,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020507.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5876G>A",
"hgvs_p": "p.Arg1959Gln",
"transcript": "XM_047430230.1",
"protein_id": "XP_047286186.1",
"transcript_support_level": null,
"aa_start": 1959,
"aa_end": null,
"aa_length": 2103,
"cds_start": 5876,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430230.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5861G>A",
"hgvs_p": "p.Arg1954Gln",
"transcript": "XM_017020515.2",
"protein_id": "XP_016876004.1",
"transcript_support_level": null,
"aa_start": 1954,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5861,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020515.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5852G>A",
"hgvs_p": "p.Arg1951Gln",
"transcript": "XM_006719936.2",
"protein_id": "XP_006719999.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2095,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719936.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5852G>A",
"hgvs_p": "p.Arg1951Gln",
"transcript": "XM_017020508.2",
"protein_id": "XP_016875997.1",
"transcript_support_level": null,
"aa_start": 1951,
"aa_end": null,
"aa_length": 2095,
"cds_start": 5852,
"cds_end": null,
"cds_length": 6288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020508.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5846G>A",
"hgvs_p": "p.Arg1949Gln",
"transcript": "XM_005254034.4",
"protein_id": "XP_005254091.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2093,
"cds_start": 5846,
"cds_end": null,
"cds_length": 6282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254034.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5846G>A",
"hgvs_p": "p.Arg1949Gln",
"transcript": "XM_047430235.1",
"protein_id": "XP_047286191.1",
"transcript_support_level": null,
"aa_start": 1949,
"aa_end": null,
"aa_length": 2093,
"cds_start": 5846,
"cds_end": null,
"cds_length": 6282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430235.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5843G>A",
"hgvs_p": "p.Arg1948Gln",
"transcript": "XM_047430236.1",
"protein_id": "XP_047286192.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 2092,
"cds_start": 5843,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430236.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5825G>A",
"hgvs_p": "p.Arg1942Gln",
"transcript": "XM_017020510.2",
"protein_id": "XP_016875999.1",
"transcript_support_level": null,
"aa_start": 1942,
"aa_end": null,
"aa_length": 2086,
"cds_start": 5825,
"cds_end": null,
"cds_length": 6261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020510.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5819G>A",
"hgvs_p": "p.Arg1940Gln",
"transcript": "XM_006719937.4",
"protein_id": "XP_006720000.1",
"transcript_support_level": null,
"aa_start": 1940,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5819,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719937.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5819G>A",
"hgvs_p": "p.Arg1940Gln",
"transcript": "XM_047430237.1",
"protein_id": "XP_047286193.1",
"transcript_support_level": null,
"aa_start": 1940,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5819,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430237.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5807G>A",
"hgvs_p": "p.Arg1936Gln",
"transcript": "XM_017020511.2",
"protein_id": "XP_016876000.1",
"transcript_support_level": null,
"aa_start": 1936,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5807,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020511.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5783G>A",
"hgvs_p": "p.Arg1928Gln",
"transcript": "XM_017020513.2",
"protein_id": "XP_016876002.1",
"transcript_support_level": null,
"aa_start": 1928,
"aa_end": null,
"aa_length": 2072,
"cds_start": 5783,
"cds_end": null,
"cds_length": 6219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020513.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5774G>A",
"hgvs_p": "p.Arg1925Gln",
"transcript": "XM_047430238.1",
"protein_id": "XP_047286194.1",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2069,
"cds_start": 5774,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430238.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5753G>A",
"hgvs_p": "p.Arg1918Gln",
"transcript": "XM_005254035.4",
"protein_id": "XP_005254092.1",
"transcript_support_level": null,
"aa_start": 1918,
"aa_end": null,
"aa_length": 2062,
"cds_start": 5753,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254035.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5741G>A",
"hgvs_p": "p.Arg1914Gln",
"transcript": "XM_047430239.1",
"protein_id": "XP_047286195.1",
"transcript_support_level": null,
"aa_start": 1914,
"aa_end": null,
"aa_length": 2058,
"cds_start": 5741,
"cds_end": null,
"cds_length": 6177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430239.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5630G>A",
"hgvs_p": "p.Arg1877Gln",
"transcript": "XM_047430240.1",
"protein_id": "XP_047286196.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 2021,
"cds_start": 5630,
"cds_end": null,
"cds_length": 6066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "n.*7991G>A",
"hgvs_p": null,
"transcript": "ENST00000630992.2",
"protein_id": "ENSP00000486606.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630992.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "n.*7991G>A",
"hgvs_p": null,
"transcript": "ENST00000630992.2",
"protein_id": "ENSP00000486606.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630992.2"
}
],
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"dbsnp": "rs201927938",
"frequency_reference_population": 0.00031236093,
"hom_count_reference_population": 0,
"allele_count_reference_population": 504,
"gnomad_exomes_af": 0.000296995,
"gnomad_genomes_af": 0.000459873,
"gnomad_exomes_ac": 434,
"gnomad_genomes_ac": 70,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024852484464645386,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0738,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.059,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001366681.2",
"gene_symbol": "DOCK9",
"hgnc_id": 14132,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5948G>A",
"hgvs_p": "p.Arg1983Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}