← 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: 22-42127593-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42127593&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42127593,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000106.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "NM_000106.6",
"protein_id": "NP_000097.3",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 497,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645361.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000106.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000645361.2",
"protein_id": "ENSP00000496150.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 497,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000106.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645361.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000359033.4",
"protein_id": "ENSP00000351927.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 446,
"cds_start": 874,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359033.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "n.*102C>A",
"hgvs_p": null,
"transcript": "ENST00000360124.10",
"protein_id": "ENSP00000353241.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000360124.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "n.*102C>A",
"hgvs_p": null,
"transcript": "ENST00000360124.10",
"protein_id": "ENSP00000353241.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000360124.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Arg366Arg",
"transcript": "ENST00000852671.1",
"protein_id": "ENSP00000522730.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 520,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852671.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1078C>A",
"hgvs_p": "p.Arg360Arg",
"transcript": "ENST00000852679.1",
"protein_id": "ENSP00000522738.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 514,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852679.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1075C>A",
"hgvs_p": "p.Arg359Arg",
"transcript": "ENST00000852654.1",
"protein_id": "ENSP00000522713.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 513,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852654.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.Arg353Arg",
"transcript": "ENST00000852657.1",
"protein_id": "ENSP00000522716.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 507,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852657.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1048C>A",
"hgvs_p": "p.Arg350Arg",
"transcript": "ENST00000852651.1",
"protein_id": "ENSP00000522710.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 504,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852651.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Arg",
"transcript": "ENST00000852661.1",
"protein_id": "ENSP00000522720.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 502,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852661.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000852665.1",
"protein_id": "ENSP00000522724.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 499,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852665.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "ENST00000852660.1",
"protein_id": "ENSP00000522719.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 496,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852660.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1021C>A",
"hgvs_p": "p.Arg341Arg",
"transcript": "ENST00000852674.1",
"protein_id": "ENSP00000522733.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 495,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852674.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1015C>A",
"hgvs_p": "p.Arg339Arg",
"transcript": "ENST00000852666.1",
"protein_id": "ENSP00000522725.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 493,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852666.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1000C>A",
"hgvs_p": "p.Arg334Arg",
"transcript": "ENST00000852675.1",
"protein_id": "ENSP00000522734.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 488,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852675.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.994C>A",
"hgvs_p": "p.Arg332Arg",
"transcript": "ENST00000963586.1",
"protein_id": "ENSP00000633645.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 486,
"cds_start": 994,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963586.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Arg331Arg",
"transcript": "ENST00000852678.1",
"protein_id": "ENSP00000522737.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 485,
"cds_start": 991,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852678.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000852676.1",
"protein_id": "ENSP00000522735.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 484,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852676.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.943C>A",
"hgvs_p": "p.Arg315Arg",
"transcript": "ENST00000852662.1",
"protein_id": "ENSP00000522721.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 469,
"cds_start": 943,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852662.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000852653.1",
"protein_id": "ENSP00000522712.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 468,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852653.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.922C>A",
"hgvs_p": "p.Arg308Arg",
"transcript": "ENST00000852656.1",
"protein_id": "ENSP00000522715.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 462,
"cds_start": 922,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852656.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.919C>A",
"hgvs_p": "p.Arg307Arg",
"transcript": "ENST00000852663.1",
"protein_id": "ENSP00000522722.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 461,
"cds_start": 919,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852663.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.904C>A",
"hgvs_p": "p.Arg302Arg",
"transcript": "ENST00000852669.1",
"protein_id": "ENSP00000522728.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 456,
"cds_start": 904,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852669.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.895C>A",
"hgvs_p": "p.Arg299Arg",
"transcript": "ENST00000852659.1",
"protein_id": "ENSP00000522718.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 453,
"cds_start": 895,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852659.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.880C>A",
"hgvs_p": "p.Arg294Arg",
"transcript": "ENST00000852664.1",
"protein_id": "ENSP00000522723.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 448,
"cds_start": 880,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852664.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000852672.1",
"protein_id": "ENSP00000522731.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 448,
"cds_start": 874,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852672.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Arg292Arg",
"transcript": "NM_001025161.3",
"protein_id": "NP_001020332.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 446,
"cds_start": 874,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025161.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.871C>A",
"hgvs_p": "p.Arg291Arg",
"transcript": "ENST00000852655.1",
"protein_id": "ENSP00000522714.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 445,
"cds_start": 871,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852655.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "ENST00000852668.1",
"protein_id": "ENSP00000522727.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 444,
"cds_start": 868,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852668.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.847C>A",
"hgvs_p": "p.Arg283Arg",
"transcript": "ENST00000852677.1",
"protein_id": "ENSP00000522736.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 437,
"cds_start": 847,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852677.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Arg281Arg",
"transcript": "ENST00000852652.1",
"protein_id": "ENSP00000522711.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 435,
"cds_start": 841,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852652.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000852670.1",
"protein_id": "ENSP00000522729.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 433,
"cds_start": 874,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852670.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Arg292Arg",
"transcript": "ENST00000852667.1",
"protein_id": "ENSP00000522726.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 417,
"cds_start": 874,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852667.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.718C>A",
"hgvs_p": "p.Arg240Arg",
"transcript": "ENST00000852658.1",
"protein_id": "ENSP00000522717.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 394,
"cds_start": 718,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852658.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Arg",
"transcript": "ENST00000852673.1",
"protein_id": "ENSP00000522732.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 393,
"cds_start": 715,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"hgvs_c": "n.1751C>A",
"hgvs_p": null,
"transcript": "ENST00000488442.1",
"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": "retained_intron",
"feature": "ENST00000488442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NDUFA6-DT",
"gene_hgnc_id": 45273,
"hgvs_c": "n.1718+2186G>T",
"hgvs_p": null,
"transcript": "ENST00000439129.5",
"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": "ENST00000439129.5"
}
],
"gene_symbol": "CYP2D6",
"gene_hgnc_id": 2625,
"dbsnp": "rs267608295",
"frequency_reference_population": 0.0000074448894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000684848,
"gnomad_genomes_af": 0.0000131869,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.481,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000106.6",
"gene_symbol": "CYP2D6",
"hgnc_id": 2625,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000439129.5",
"gene_symbol": "NDUFA6-DT",
"hgnc_id": 45273,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1718+2186G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}