← 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: 1-26438214-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26438214&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26438214,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000236342.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "NM_205861.3",
"protein_id": "NP_995583.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "ENST00000236342.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000236342.12",
"protein_id": "ENSP00000236342.7",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": "NM_205861.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000526219.5",
"protein_id": "ENSP00000434219.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 294,
"cds_start": 110,
"cds_end": null,
"cds_length": 885,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1072,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.110G>T",
"hgvs_p": null,
"transcript": "ENST00000434391.6",
"protein_id": "ENSP00000403529.2",
"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": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000703262.1",
"protein_id": "ENSP00000515247.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 354,
"cds_start": 110,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "NM_024887.4",
"protein_id": "NP_079163.2",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 334,
"cds_start": 110,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000360009.6",
"protein_id": "ENSP00000353104.2",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 334,
"cds_start": 110,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000528557.6",
"protein_id": "ENSP00000515248.1",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "NM_001243564.2",
"protein_id": "NP_001230493.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 110,
"cds_end": null,
"cds_length": 900,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000525682.6",
"protein_id": "ENSP00000434984.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 110,
"cds_end": null,
"cds_length": 900,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000703198.1",
"protein_id": "ENSP00000515227.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 297,
"cds_start": 110,
"cds_end": null,
"cds_length": 894,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "NM_001243565.2",
"protein_id": "NP_001230494.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 294,
"cds_start": 110,
"cds_end": null,
"cds_length": 885,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000703202.1",
"protein_id": "ENSP00000515231.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 285,
"cds_start": 110,
"cds_end": null,
"cds_length": 858,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000703199.1",
"protein_id": "ENSP00000515228.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 260,
"cds_start": 110,
"cds_end": null,
"cds_length": 783,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000430232.5",
"protein_id": "ENSP00000397584.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 215,
"cds_start": 110,
"cds_end": null,
"cds_length": 648,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000374185.7",
"protein_id": "ENSP00000363300.3",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 209,
"cds_start": 110,
"cds_end": null,
"cds_length": 630,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000427245.6",
"protein_id": "ENSP00000399177.2",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 198,
"cds_start": 110,
"cds_end": null,
"cds_length": 597,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000436153.6",
"protein_id": "ENSP00000405604.2",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 172,
"cds_start": 110,
"cds_end": null,
"cds_length": 521,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000533087.5",
"protein_id": "ENSP00000436119.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 164,
"cds_start": 110,
"cds_end": null,
"cds_length": 497,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000531312.5",
"protein_id": "ENSP00000436764.1",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 129,
"cds_start": 110,
"cds_end": null,
"cds_length": 392,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000525165.5",
"protein_id": "ENSP00000434185.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 121,
"cds_start": 110,
"cds_end": null,
"cds_length": 367,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000525546.5",
"protein_id": "ENSP00000433976.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 84,
"cds_start": 110,
"cds_end": null,
"cds_length": 255,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000525326.5",
"protein_id": "ENSP00000431407.1",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 70,
"cds_start": 110,
"cds_end": null,
"cds_length": 213,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "ENST00000530781.5",
"protein_id": "ENSP00000433491.1",
"transcript_support_level": 4,
"aa_start": 37,
"aa_end": null,
"aa_length": 59,
"cds_start": 110,
"cds_end": null,
"cds_length": 180,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430849.1",
"protein_id": "XP_047286805.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 334,
"cds_start": 110,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430850.1",
"protein_id": "XP_047286806.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 334,
"cds_start": 110,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430851.1",
"protein_id": "XP_047286807.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 334,
"cds_start": 110,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430852.1",
"protein_id": "XP_047286808.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 334,
"cds_start": 110,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430853.1",
"protein_id": "XP_047286809.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430854.1",
"protein_id": "XP_047286810.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430856.1",
"protein_id": "XP_047286812.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430857.1",
"protein_id": "XP_047286813.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 333,
"cds_start": 110,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430859.1",
"protein_id": "XP_047286815.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 300,
"cds_start": 110,
"cds_end": null,
"cds_length": 903,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430860.1",
"protein_id": "XP_047286816.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 300,
"cds_start": 110,
"cds_end": null,
"cds_length": 903,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430861.1",
"protein_id": "XP_047286817.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 300,
"cds_start": 110,
"cds_end": null,
"cds_length": 903,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430862.1",
"protein_id": "XP_047286818.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 300,
"cds_start": 110,
"cds_end": null,
"cds_length": 903,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430863.1",
"protein_id": "XP_047286819.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 110,
"cds_end": null,
"cds_length": 900,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430864.1",
"protein_id": "XP_047286820.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 110,
"cds_end": null,
"cds_length": 900,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047430865.1",
"protein_id": "XP_047286821.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 299,
"cds_start": 110,
"cds_end": null,
"cds_length": 900,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 3205,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.213G>T",
"hgvs_p": null,
"transcript": "ENST00000374186.7",
"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": 656,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.197G>T",
"hgvs_p": null,
"transcript": "ENST00000487944.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 717,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.278G>T",
"hgvs_p": null,
"transcript": "ENST00000525410.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 595,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.195G>T",
"hgvs_p": null,
"transcript": "ENST00000526278.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.286G>T",
"hgvs_p": null,
"transcript": "ENST00000529688.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 589,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.330G>T",
"hgvs_p": null,
"transcript": "ENST00000531955.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 559,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.110G>T",
"hgvs_p": null,
"transcript": "ENST00000703200.1",
"protein_id": "ENSP00000515229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.110G>T",
"hgvs_p": null,
"transcript": "ENST00000703201.1",
"protein_id": "ENSP00000515230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3360,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.110G>T",
"hgvs_p": null,
"transcript": "ENST00000703203.1",
"protein_id": "ENSP00000515232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2576,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "n.110G>T",
"hgvs_p": null,
"transcript": "ENST00000703263.1",
"protein_id": "ENSP00000515249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"hgvs_c": "c.-193G>T",
"hgvs_p": null,
"transcript": "NM_001319959.2",
"protein_id": "NP_001306888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DHDDS-AS1",
"gene_hgnc_id": 40925,
"hgvs_c": "n.462-7096C>A",
"hgvs_p": null,
"transcript": "ENST00000746082.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DHDDS",
"gene_hgnc_id": 20603,
"dbsnp": "rs1553121073",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9259899854660034,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000236342.12",
"gene_symbol": "DHDDS",
"hgnc_id": 20603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000746082.1",
"gene_symbol": "DHDDS-AS1",
"hgnc_id": 40925,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.462-7096C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Retinitis pigmentosa 59",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Retinitis pigmentosa 59",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}