← 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: 11-110264852-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=110264852&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 110264852,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000645495.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_002906.4",
"protein_id": "NP_002897.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 583,
"cds_start": 119,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": "ENST00000645495.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "ENST00000645495.2",
"protein_id": "ENSP00000496503.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 583,
"cds_start": 119,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": "NM_002906.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "ENST00000528498.5",
"protein_id": "ENSP00000432112.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 604,
"cds_start": 119,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.-83+14829G>T",
"hgvs_p": null,
"transcript": "ENST00000528900.5",
"protein_id": "ENSP00000433580.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.97-618G>T",
"hgvs_p": null,
"transcript": "ENST00000530301.5",
"protein_id": "ENSP00000436277.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001440509.1",
"protein_id": "NP_001427438.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 645,
"cds_start": 119,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001260492.2",
"protein_id": "NP_001247421.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 604,
"cds_start": 119,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001260493.2",
"protein_id": "NP_001247422.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 604,
"cds_start": 119,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001440505.1",
"protein_id": "NP_001427434.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 604,
"cds_start": 119,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001440506.1",
"protein_id": "NP_001427435.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 604,
"cds_start": 119,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "ENST00000647231.1",
"protein_id": "ENSP00000496414.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 604,
"cds_start": 119,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "NM_001440510.1",
"protein_id": "NP_001427439.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 593,
"cds_start": 86,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "NM_001440511.1",
"protein_id": "NP_001427440.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 593,
"cds_start": 86,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001440512.1",
"protein_id": "NP_001427441.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 590,
"cds_start": 119,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001440507.1",
"protein_id": "NP_001427436.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 583,
"cds_start": 119,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu",
"transcript": "NM_001440508.1",
"protein_id": "NP_001427437.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 583,
"cds_start": 119,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "NM_001440513.1",
"protein_id": "NP_001427442.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 572,
"cds_start": 86,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "NM_001440514.1",
"protein_id": "NP_001427443.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 572,
"cds_start": 86,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "NM_001440515.1",
"protein_id": "NP_001427444.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 572,
"cds_start": 86,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.35G>T",
"hgvs_p": "p.Arg12Leu",
"transcript": "NM_001440516.1",
"protein_id": "NP_001427445.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 555,
"cds_start": 35,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "ENST00000532118.5",
"protein_id": "ENSP00000437140.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 147,
"cds_start": 86,
"cds_end": null,
"cds_length": 445,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.86G>T",
"hgvs_p": "p.Arg29Leu",
"transcript": "ENST00000533991.1",
"protein_id": "ENSP00000432572.1",
"transcript_support_level": 4,
"aa_start": 29,
"aa_end": null,
"aa_length": 115,
"cds_start": 86,
"cds_end": null,
"cds_length": 349,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.*107G>T",
"hgvs_p": null,
"transcript": "ENST00000528556.5",
"protein_id": "ENSP00000434881.1",
"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": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.119G>T",
"hgvs_p": null,
"transcript": "ENST00000530749.5",
"protein_id": "ENSP00000437301.1",
"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": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.*107G>T",
"hgvs_p": null,
"transcript": "ENST00000533678.1",
"protein_id": "ENSP00000435930.1",
"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": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.119G>T",
"hgvs_p": null,
"transcript": "ENST00000645527.1",
"protein_id": "ENSP00000496121.1",
"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": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.119G>T",
"hgvs_p": null,
"transcript": "ENST00000646663.1",
"protein_id": "ENSP00000494693.1",
"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": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.*107G>T",
"hgvs_p": null,
"transcript": "ENST00000528556.5",
"protein_id": "ENSP00000434881.1",
"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": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.*107G>T",
"hgvs_p": null,
"transcript": "ENST00000533678.1",
"protein_id": "ENSP00000435930.1",
"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": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.97-618G>T",
"hgvs_p": null,
"transcript": "NM_001440517.1",
"protein_id": "NP_001427446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.60-6663G>T",
"hgvs_p": null,
"transcript": "NM_001260494.2",
"protein_id": "NP_001247423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.60-6663G>T",
"hgvs_p": null,
"transcript": "ENST00000544551.5",
"protein_id": "ENSP00000445826.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.-83+14829G>T",
"hgvs_p": null,
"transcript": "NM_001260495.2",
"protein_id": "NP_001247424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.97-618G>T",
"hgvs_p": null,
"transcript": "NM_001260496.2",
"protein_id": "NP_001247425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.-137-832G>T",
"hgvs_p": null,
"transcript": "ENST00000534683.1",
"protein_id": "ENSP00000431560.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.97-6663G>T",
"hgvs_p": null,
"transcript": "ENST00000530131.5",
"protein_id": "ENSP00000432829.1",
"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": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.-29G>T",
"hgvs_p": null,
"transcript": "ENST00000642511.1",
"protein_id": "ENSP00000494706.1",
"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": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"dbsnp": "rs771175890",
"frequency_reference_population": 0.000009578492,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957849,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7225562334060669,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.593,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.066,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645495.2",
"gene_symbol": "RDX",
"hgnc_id": 9944,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.119G>T",
"hgvs_p": "p.Arg40Leu"
}
],
"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
}