← 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: 22-42627674-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42627674&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42627674,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000352397.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160*",
"transcript": "NM_000398.7",
"protein_id": "NP_000389.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 301,
"cds_start": 478,
"cds_end": null,
"cds_length": 906,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "ENST00000352397.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160*",
"transcript": "ENST00000352397.10",
"protein_id": "ENSP00000338461.6",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 301,
"cds_start": 478,
"cds_end": null,
"cds_length": 906,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "NM_000398.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166*",
"transcript": "ENST00000407332.6",
"protein_id": "ENSP00000384457.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 307,
"cds_start": 496,
"cds_end": null,
"cds_length": 924,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1904,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2612C>T",
"hgvs_p": null,
"transcript": "ENST00000470741.1",
"protein_id": null,
"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": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.13C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.610C>T",
"hgvs_p": "p.Arg204*",
"transcript": "ENST00000361740.9",
"protein_id": "ENSP00000354468.5",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 345,
"cds_start": 610,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193*",
"transcript": "NM_001171660.2",
"protein_id": "NP_001165131.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 334,
"cds_start": 577,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193*",
"transcript": "ENST00000688117.1",
"protein_id": "ENSP00000509015.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 334,
"cds_start": 577,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160*",
"transcript": "ENST00000693363.1",
"protein_id": "ENSP00000510411.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 315,
"cds_start": 478,
"cds_end": null,
"cds_length": 948,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160*",
"transcript": "ENST00000693367.1",
"protein_id": "ENSP00000508815.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 298,
"cds_start": 478,
"cds_end": null,
"cds_length": 897,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "NM_001129819.2",
"protein_id": "NP_001123291.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "NM_001171661.1",
"protein_id": "NP_001165132.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "NM_007326.4",
"protein_id": "NP_015565.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "ENST00000402438.6",
"protein_id": "ENSP00000385679.1",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "ENST00000407623.8",
"protein_id": "ENSP00000384834.3",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "ENST00000687198.1",
"protein_id": "ENSP00000508492.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "ENST00000692152.1",
"protein_id": "ENSP00000509317.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 278,
"cds_start": 409,
"cds_end": null,
"cds_length": 837,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137*",
"transcript": "ENST00000438270.2",
"protein_id": "ENSP00000403439.2",
"transcript_support_level": 3,
"aa_start": 137,
"aa_end": null,
"aa_length": 158,
"cds_start": 409,
"cds_end": null,
"cds_length": 478,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.448C>T",
"hgvs_p": "p.Arg150*",
"transcript": "XM_047441183.1",
"protein_id": "XP_047297139.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 291,
"cds_start": 448,
"cds_end": null,
"cds_length": 876,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2988,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.2218C>T",
"hgvs_p": null,
"transcript": "ENST00000684963.1",
"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": 3606,
"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": 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.*427C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2012,
"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": 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.539C>T",
"hgvs_p": null,
"transcript": "ENST00000687183.1",
"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": 2137,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.885C>T",
"hgvs_p": null,
"transcript": "ENST00000689001.1",
"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": 2488,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.645C>T",
"hgvs_p": null,
"transcript": "ENST00000689239.1",
"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": 1132,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.640C>T",
"hgvs_p": null,
"transcript": "ENST00000689795.1",
"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": 2127,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.478C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.1018C>T",
"hgvs_p": null,
"transcript": "ENST00000690993.1",
"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": 1955,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.348C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1763,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.457C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.965C>T",
"hgvs_p": null,
"transcript": "ENST00000692344.1",
"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": 1439,
"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": 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.471C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "n.384C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 639,
"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": 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.*427C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2012,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.464-285C>T",
"hgvs_p": null,
"transcript": "ENST00000689195.1",
"protein_id": "ENSP00000509895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1654,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"hgvs_c": "c.333+3208C>T",
"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": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYB5R3",
"gene_hgnc_id": 2873,
"dbsnp": "rs61732609",
"frequency_reference_population": 0.00006072887,
"hom_count_reference_population": 0,
"allele_count_reference_population": 98,
"gnomad_exomes_af": 0.0000636315,
"gnomad_genomes_af": 0.0000328537,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.894,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000352397.10",
"gene_symbol": "CYB5R3",
"hgnc_id": 2873,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000617178.5",
"gene_symbol": "ENSG00000289517",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.13C>T",
"hgvs_p": null
}
],
"clinvar_disease": " TYPE II,Deficiency of cytochrome-b5 reductase,METHEMOGLOBINEMIA,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "METHEMOGLOBINEMIA, TYPE II|not provided|Deficiency of cytochrome-b5 reductase",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}