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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: 11-86306374-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=86306374&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 86306374,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016401.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "NM_016401.4",
"protein_id": "NP_057485.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 197,
"cds_start": 160,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278483.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016401.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000278483.8",
"protein_id": "ENSP00000278483.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 197,
"cds_start": 160,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016401.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278483.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000533986.5",
"protein_id": "ENSP00000432699.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 194,
"cds_start": 160,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533986.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000932066.1",
"protein_id": "ENSP00000602125.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 195,
"cds_start": 160,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932066.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000932065.1",
"protein_id": "ENSP00000602124.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 193,
"cds_start": 160,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932065.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000932067.1",
"protein_id": "ENSP00000602126.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 193,
"cds_start": 160,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932067.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000932068.1",
"protein_id": "ENSP00000602127.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 183,
"cds_start": 160,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932068.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "NM_001322404.2",
"protein_id": "NP_001309333.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 177,
"cds_start": 160,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322404.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000909754.1",
"protein_id": "ENSP00000579813.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 177,
"cds_start": 160,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909754.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000932069.1",
"protein_id": "ENSP00000602128.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 176,
"cds_start": 160,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932069.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "ENST00000932070.1",
"protein_id": "ENSP00000602129.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 175,
"cds_start": 160,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932070.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Val15Leu",
"transcript": "NM_001322407.2",
"protein_id": "NP_001309336.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 158,
"cds_start": 43,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322407.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Val15Leu",
"transcript": "NM_001322409.2",
"protein_id": "NP_001309338.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 158,
"cds_start": 43,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322409.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu",
"transcript": "XM_017017914.3",
"protein_id": "XP_016873403.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 179,
"cds_start": 160,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017914.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Val15Leu",
"transcript": "XM_017017915.2",
"protein_id": "XP_016873404.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 158,
"cds_start": 43,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017915.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.30+3896G>C",
"hgvs_p": null,
"transcript": "ENST00000932071.1",
"protein_id": "ENSP00000602130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.160G>C",
"hgvs_p": null,
"transcript": "ENST00000528004.5",
"protein_id": "ENSP00000433815.1",
"transcript_support_level": 2,
"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": "ENST00000528004.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.235G>C",
"hgvs_p": null,
"transcript": "ENST00000530208.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000530208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.499G>C",
"hgvs_p": null,
"transcript": "ENST00000532270.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000532270.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.369G>C",
"hgvs_p": null,
"transcript": "NR_136324.2",
"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_136324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.369G>C",
"hgvs_p": null,
"transcript": "XR_001747904.3",
"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": "XR_001747904.3"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.236+3896G>C",
"hgvs_p": null,
"transcript": "ENST00000531485.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000531485.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.239+3896G>C",
"hgvs_p": null,
"transcript": "NR_024597.2",
"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_024597.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "n.239+3896G>C",
"hgvs_p": null,
"transcript": "NR_024598.2",
"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_024598.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"hgvs_c": "c.-269G>C",
"hgvs_p": null,
"transcript": "XM_047427117.1",
"protein_id": "XP_047283073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427117.1"
}
],
"gene_symbol": "HIKESHI",
"gene_hgnc_id": 26938,
"dbsnp": "rs202003795",
"frequency_reference_population": 0.0000892378,
"hom_count_reference_population": 1,
"allele_count_reference_population": 144,
"gnomad_exomes_af": 0.0000889493,
"gnomad_genomes_af": 0.0000920084,
"gnomad_exomes_ac": 130,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17225518822669983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.387,
"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,PP5_Very_Strong,BP4",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 1,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong",
"BP4"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_016401.4",
"gene_symbol": "HIKESHI",
"hgnc_id": 26938,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Val54Leu"
}
],
"clinvar_disease": "HIKESHI-related disorder,Hypomyelinating leukodystrophy 13,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Hypomyelinating leukodystrophy 13|not provided|HIKESHI-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}