← 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: 22-42627327-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42627327&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42627327,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001171660.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.610T>C",
"hgvs_p": "p.Cys204Arg",
"transcript": "NM_000398.7",
"protein_id": "NP_000389.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 301,
"cds_start": 610,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352397.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000398.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.610T>C",
"hgvs_p": "p.Cys204Arg",
"transcript": "ENST00000352397.10",
"protein_id": "ENSP00000338461.6",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 301,
"cds_start": 610,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000398.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352397.10"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "ENST00000407332.6",
"protein_id": "ENSP00000384457.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 307,
"cds_start": 628,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407332.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2744T>C",
"hgvs_p": null,
"transcript": "ENST00000470741.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000470741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.145T>C",
"hgvs_p": null,
"transcript": "ENST00000617178.5",
"protein_id": "ENSP00000482500.2",
"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": "ENST00000617178.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.742T>C",
"hgvs_p": "p.Cys248Arg",
"transcript": "ENST00000361740.9",
"protein_id": "ENSP00000354468.5",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 345,
"cds_start": 742,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361740.9"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.709T>C",
"hgvs_p": "p.Cys237Arg",
"transcript": "NM_001171660.2",
"protein_id": "NP_001165131.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 334,
"cds_start": 709,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171660.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.709T>C",
"hgvs_p": "p.Cys237Arg",
"transcript": "ENST00000688117.1",
"protein_id": "ENSP00000509015.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 334,
"cds_start": 709,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688117.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.652T>C",
"hgvs_p": "p.Cys218Arg",
"transcript": "ENST00000693363.1",
"protein_id": "ENSP00000510411.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 315,
"cds_start": 652,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693363.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Cys211Arg",
"transcript": "ENST00000966833.1",
"protein_id": "ENSP00000636892.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 308,
"cds_start": 631,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966833.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.610T>C",
"hgvs_p": "p.Cys204Arg",
"transcript": "ENST00000693367.1",
"protein_id": "ENSP00000508815.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 298,
"cds_start": 610,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693367.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "ENST00000897015.1",
"protein_id": "ENSP00000567074.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 297,
"cds_start": 598,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897015.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Cys187Arg",
"transcript": "ENST00000897017.1",
"protein_id": "ENSP00000567076.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 284,
"cds_start": 559,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897017.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "NM_001129819.2",
"protein_id": "NP_001123291.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129819.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "NM_001171661.1",
"protein_id": "NP_001165132.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171661.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "NM_007326.4",
"protein_id": "NP_015565.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007326.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "ENST00000402438.6",
"protein_id": "ENSP00000385679.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402438.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "ENST00000407623.8",
"protein_id": "ENSP00000384834.3",
"transcript_support_level": 3,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407623.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "ENST00000687198.1",
"protein_id": "ENSP00000508492.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687198.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "ENST00000692152.1",
"protein_id": "ENSP00000509317.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 278,
"cds_start": 541,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692152.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.532T>C",
"hgvs_p": "p.Cys178Arg",
"transcript": "ENST00000897016.1",
"protein_id": "ENSP00000567075.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 275,
"cds_start": 532,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897016.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Cys176Arg",
"transcript": "ENST00000689195.1",
"protein_id": "ENSP00000509895.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 273,
"cds_start": 526,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689195.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.478T>C",
"hgvs_p": "p.Cys160Arg",
"transcript": "ENST00000897018.1",
"protein_id": "ENSP00000567077.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 257,
"cds_start": 478,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897018.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.475T>C",
"hgvs_p": "p.Cys159Arg",
"transcript": "ENST00000897019.1",
"protein_id": "ENSP00000567078.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 256,
"cds_start": 475,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897019.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.430T>C",
"hgvs_p": "p.Cys144Arg",
"transcript": "ENST00000897014.1",
"protein_id": "ENSP00000567073.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 241,
"cds_start": 430,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897014.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.580T>C",
"hgvs_p": "p.Cys194Arg",
"transcript": "XM_047441183.1",
"protein_id": "XP_047297139.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 291,
"cds_start": 580,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441183.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.334-3439T>C",
"hgvs_p": null,
"transcript": "ENST00000688244.1",
"protein_id": "ENSP00000510355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2350T>C",
"hgvs_p": null,
"transcript": "ENST00000684963.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*559T>C",
"hgvs_p": null,
"transcript": "ENST00000686523.1",
"protein_id": "ENSP00000508940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000686523.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.886T>C",
"hgvs_p": null,
"transcript": "ENST00000687183.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000687183.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.1232T>C",
"hgvs_p": null,
"transcript": "ENST00000689001.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689001.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.777T>C",
"hgvs_p": null,
"transcript": "ENST00000689239.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.772T>C",
"hgvs_p": null,
"transcript": "ENST00000689795.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.610T>C",
"hgvs_p": null,
"transcript": "ENST00000690835.1",
"protein_id": "ENSP00000509038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690835.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.1365T>C",
"hgvs_p": null,
"transcript": "ENST00000690993.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000690993.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*93T>C",
"hgvs_p": null,
"transcript": "ENST00000691295.1",
"protein_id": "ENSP00000508706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691295.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.589T>C",
"hgvs_p": null,
"transcript": "ENST00000691918.1",
"protein_id": "ENSP00000509525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691918.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.1097T>C",
"hgvs_p": null,
"transcript": "ENST00000692344.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*93T>C",
"hgvs_p": null,
"transcript": "ENST00000693639.1",
"protein_id": "ENSP00000510223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693639.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*93T>C",
"hgvs_p": null,
"transcript": "ENST00000693646.1",
"protein_id": "ENSP00000508449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*559T>C",
"hgvs_p": null,
"transcript": "ENST00000686523.1",
"protein_id": "ENSP00000508940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000686523.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*93T>C",
"hgvs_p": null,
"transcript": "ENST00000691295.1",
"protein_id": "ENSP00000508706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*93T>C",
"hgvs_p": null,
"transcript": "ENST00000693639.1",
"protein_id": "ENSP00000510223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693639.1"
},
{
"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": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.*93T>C",
"hgvs_p": null,
"transcript": "ENST00000693646.1",
"protein_id": "ENSP00000508449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693646.1"
}
],
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"dbsnp": "rs121965011",
"frequency_reference_population": 0.0000013682942,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136829,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9854376316070557,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.748,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.251,
"phylop100way_prediction": "Pathogenic",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001171660.2",
"gene_symbol": "CYB5R3",
"hgnc_id": 2873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.709T>C",
"hgvs_p": "p.Cys237Arg"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000617178.5",
"gene_symbol": "ENSG00000289517",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.145T>C",
"hgvs_p": null
}
],
"clinvar_disease": " TYPE II,METHEMOGLOBINEMIA",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "METHEMOGLOBINEMIA, TYPE II",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}