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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-47137625-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47137625&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 47137625,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001010969.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "NM_001010969.4",
"protein_id": "NP_001010969.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 519,
"cds_start": 140,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371891.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010969.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000371891.8",
"protein_id": "ENSP00000360958.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 519,
"cds_start": 140,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010969.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371891.8"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000294337.7",
"protein_id": "ENSP00000294337.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 455,
"cds_start": 140,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294337.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000619754.4",
"protein_id": "ENSP00000482952.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 357,
"cds_start": 140,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619754.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856556.1",
"protein_id": "ENSP00000526615.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 525,
"cds_start": 140,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856556.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856561.1",
"protein_id": "ENSP00000526620.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 504,
"cds_start": 140,
"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": "ENST00000856561.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856562.1",
"protein_id": "ENSP00000526621.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 502,
"cds_start": 140,
"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": "ENST00000856562.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856560.1",
"protein_id": "ENSP00000526619.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 497,
"cds_start": 140,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856560.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856564.1",
"protein_id": "ENSP00000526623.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 474,
"cds_start": 140,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856564.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856558.1",
"protein_id": "ENSP00000526617.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 450,
"cds_start": 140,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856558.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856565.1",
"protein_id": "ENSP00000526624.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 427,
"cds_start": 140,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856565.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "NM_001437457.1",
"protein_id": "NP_001424386.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 421,
"cds_start": 140,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437457.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000371890.7",
"protein_id": "ENSP00000360957.3",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 421,
"cds_start": 140,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371890.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856563.1",
"protein_id": "ENSP00000526622.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 406,
"cds_start": 140,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856563.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856559.1",
"protein_id": "ENSP00000526618.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 389,
"cds_start": 140,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856559.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "ENST00000856557.1",
"protein_id": "ENSP00000526616.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 359,
"cds_start": 140,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856557.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "NM_001308102.2",
"protein_id": "NP_001295031.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 357,
"cds_start": 140,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308102.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "XM_047418181.1",
"protein_id": "XP_047274137.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 333,
"cds_start": 140,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418181.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp",
"transcript": "XM_005270770.4",
"protein_id": "XP_005270827.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 261,
"cds_start": 140,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270770.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "n.191C>A",
"hgvs_p": null,
"transcript": "ENST00000485117.1",
"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": "pseudogene",
"feature": "ENST00000485117.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"hgvs_c": "n.191C>A",
"hgvs_p": null,
"transcript": "ENST00000490948.5",
"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": "ENST00000490948.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.396+39410G>T",
"hgvs_p": null,
"transcript": "ENST00000444042.2",
"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": "ENST00000444042.2"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.1123+35224G>T",
"hgvs_p": null,
"transcript": "ENST00000815597.1",
"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": "pseudogene",
"feature": "ENST00000815597.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.1114+35224G>T",
"hgvs_p": null,
"transcript": "NR_189276.1",
"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": "pseudogene",
"feature": "NR_189276.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP4A22-AS1",
"gene_hgnc_id": 43715,
"hgvs_c": "n.1160+35224G>T",
"hgvs_p": null,
"transcript": "NR_199717.1",
"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": "pseudogene",
"feature": "NR_199717.1"
}
],
"gene_symbol": "CYP4A22",
"gene_hgnc_id": 20575,
"dbsnp": "rs534701920",
"frequency_reference_population": 0.000008053984,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": 0.0000656409,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1423988938331604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.1605,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.009,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001010969.4",
"gene_symbol": "CYP4A22",
"hgnc_id": 20575,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.140C>A",
"hgvs_p": "p.Ala47Asp"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_189276.1",
"gene_symbol": "CYP4A22-AS1",
"hgnc_id": 43715,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1114+35224G>T",
"hgvs_p": null
}
],
"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
}