← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-245082118-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=245082118&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 245082118,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001290327.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "NM_032328.4",
"protein_id": "NP_115704.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 219,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366523.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032328.4"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "ENST00000366523.6",
"protein_id": "ENSP00000355480.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 219,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032328.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366523.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Phe115Phe",
"transcript": "ENST00000948553.1",
"protein_id": "ENSP00000618612.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 204,
"cds_start": 345,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948553.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Phe83Phe",
"transcript": "NM_001290327.2",
"protein_id": "NP_001277256.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 172,
"cds_start": 249,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290327.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "ENST00000923178.1",
"protein_id": "ENSP00000593237.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 219,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923178.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "ENST00000948552.1",
"protein_id": "ENSP00000618611.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 162,
"cds_start": 219,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948552.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "NM_001143943.1",
"protein_id": "NP_001137415.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 133,
"cds_start": 219,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143943.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "ENST00000447569.6",
"protein_id": "ENSP00000408661.2",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 133,
"cds_start": 219,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447569.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Phe44Phe",
"transcript": "ENST00000923177.1",
"protein_id": "ENSP00000593236.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 133,
"cds_start": 132,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923177.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Phe64Phe",
"transcript": "ENST00000551317.5",
"protein_id": "ENSP00000447807.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 130,
"cds_start": 192,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551317.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Phe64Phe",
"transcript": "ENST00000425550.5",
"protein_id": "ENSP00000405269.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 126,
"cds_start": 192,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425550.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_047432064.1",
"protein_id": "XP_047288020.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 234,
"cds_start": 435,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432064.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_017002538.2",
"protein_id": "XP_016858027.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 225,
"cds_start": 435,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002538.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_017002539.2",
"protein_id": "XP_016858028.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 220,
"cds_start": 435,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002539.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_017002540.2",
"protein_id": "XP_016858029.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 209,
"cds_start": 435,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002540.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_017002541.2",
"protein_id": "XP_016858030.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 207,
"cds_start": 435,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002541.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_047432065.1",
"protein_id": "XP_047288021.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 205,
"cds_start": 435,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432065.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.435C>T",
"hgvs_p": "p.Phe145Phe",
"transcript": "XM_047432066.1",
"protein_id": "XP_047288022.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 197,
"cds_start": 435,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432066.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.288C>T",
"hgvs_p": "p.Phe96Phe",
"transcript": "XM_011544300.3",
"protein_id": "XP_011542602.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 185,
"cds_start": 288,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544300.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Phe83Phe",
"transcript": "XM_011544301.2",
"protein_id": "XP_011542603.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 172,
"cds_start": 249,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544301.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Phe66Phe",
"transcript": "XM_017002544.2",
"protein_id": "XP_016858033.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 155,
"cds_start": 198,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002544.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "XM_047432067.1",
"protein_id": "XP_047288023.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 148,
"cds_start": 219,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432067.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Phe83Phe",
"transcript": "XM_017002542.3",
"protein_id": "XP_016858031.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 143,
"cds_start": 249,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002542.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "XM_047432068.1",
"protein_id": "XP_047288024.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 137,
"cds_start": 219,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432068.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Phe83Phe",
"transcript": "XM_017002543.2",
"protein_id": "XP_016858032.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 135,
"cds_start": 249,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002543.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "XM_047432069.1",
"protein_id": "XP_047288025.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 133,
"cds_start": 219,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432069.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Phe41Phe",
"transcript": "XM_047432070.1",
"protein_id": "XP_047288026.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 130,
"cds_start": 123,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432070.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe",
"transcript": "XM_047432071.1",
"protein_id": "XP_047288027.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 125,
"cds_start": 219,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "c.*32C>T",
"hgvs_p": null,
"transcript": "XM_017002545.2",
"protein_id": "XP_016858034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002545.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.394C>T",
"hgvs_p": null,
"transcript": "ENST00000366521.7",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000366521.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.768C>T",
"hgvs_p": null,
"transcript": "ENST00000366522.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000366522.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.288C>T",
"hgvs_p": null,
"transcript": "ENST00000391837.7",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000391837.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000473686.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000473686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.163C>T",
"hgvs_p": null,
"transcript": "ENST00000487845.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000487845.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.253C>T",
"hgvs_p": null,
"transcript": "ENST00000495271.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000495271.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.267C>T",
"hgvs_p": null,
"transcript": "ENST00000497591.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000497591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB2",
"gene_hgnc_id": 28166,
"hgvs_c": "n.260C>T",
"hgvs_p": null,
"transcript": "ENST00000549220.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000549220.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"hgvs_c": "n.224C>T",
"hgvs_p": null,
"transcript": "NR_026587.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_026587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305254",
"gene_hgnc_id": null,
"hgvs_c": "n.370-196G>A",
"hgvs_p": null,
"transcript": "ENST00000809837.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000809837.1"
}
],
"gene_symbol": "DRC8",
"gene_hgnc_id": 28166,
"dbsnp": "rs142888002",
"frequency_reference_population": 0.0042081946,
"hom_count_reference_population": 44,
"allele_count_reference_population": 6786,
"gnomad_exomes_af": 0.0042121,
"gnomad_genomes_af": 0.00417072,
"gnomad_exomes_ac": 6151,
"gnomad_genomes_ac": 635,
"gnomad_exomes_homalt": 36,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13500000536441803,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.037,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001290327.2",
"gene_symbol": "DRC8",
"hgnc_id": 28166,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Phe83Phe"
},
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000366523.6",
"gene_symbol": "EFCAB2",
"hgnc_id": 28166,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.219C>T",
"hgvs_p": "p.Phe73Phe"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000809837.1",
"gene_symbol": "ENSG00000305254",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.370-196G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}