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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: 1-35387063-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35387063&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 35387063,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001375653.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"transcript": "NM_005095.3",
"protein_id": "NP_005086.2",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314607.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005095.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"transcript": "ENST00000314607.11",
"protein_id": "ENSP00000322915.6",
"transcript_support_level": 2,
"aa_start": 633,
"aa_end": null,
"aa_length": 1548,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005095.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314607.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Val636Ile",
"transcript": "NM_001375653.1",
"protein_id": "NP_001362582.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1551,
"cds_start": 1906,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375653.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"transcript": "ENST00000933225.1",
"protein_id": "ENSP00000603284.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1546,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933225.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1897G>A",
"hgvs_p": "p.Val633Ile",
"transcript": "ENST00000933226.1",
"protein_id": "ENSP00000603285.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1525,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933226.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "NM_001350138.2",
"protein_id": "NP_001337067.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1516,
"cds_start": 1801,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350138.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1726G>A",
"hgvs_p": "p.Val576Ile",
"transcript": "ENST00000933224.1",
"protein_id": "ENSP00000603283.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 1491,
"cds_start": 1726,
"cds_end": null,
"cds_length": 4476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933224.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Val309Ile",
"transcript": "NM_001350139.2",
"protein_id": "NP_001337068.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1224,
"cds_start": 925,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350139.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Val309Ile",
"transcript": "NM_001350140.2",
"protein_id": "NP_001337069.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1224,
"cds_start": 925,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350140.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Val292Ile",
"transcript": "ENST00000457946.1",
"protein_id": "ENSP00000400506.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 1206,
"cds_start": 874,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457946.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "XM_017002803.2",
"protein_id": "XP_016858292.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1516,
"cds_start": 1801,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002803.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "XM_047434269.1",
"protein_id": "XP_047290225.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1516,
"cds_start": 1801,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434269.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "XM_047434270.1",
"protein_id": "XP_047290226.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1516,
"cds_start": 1801,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434270.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "XM_047434271.1",
"protein_id": "XP_047290227.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1516,
"cds_start": 1801,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434271.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"transcript": "XM_047434274.1",
"protein_id": "XP_047290230.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1114,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434274.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Val636Ile",
"transcript": "XM_047434276.1",
"protein_id": "XP_047290232.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1906,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434276.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Val309Ile",
"transcript": "XM_005271331.3",
"protein_id": "XP_005271388.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1224,
"cds_start": 925,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271331.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Val309Ile",
"transcript": "XM_024450838.2",
"protein_id": "XP_024306606.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1224,
"cds_start": 925,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450838.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Val309Ile",
"transcript": "XM_047434278.1",
"protein_id": "XP_047290234.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1224,
"cds_start": 925,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434278.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Val246Ile",
"transcript": "XM_047434279.1",
"protein_id": "XP_047290235.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 1161,
"cds_start": 736,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434279.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Val188Ile",
"transcript": "XM_047434282.1",
"protein_id": "XP_047290238.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1103,
"cds_start": 562,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434282.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Val188Ile",
"transcript": "XM_047434289.1",
"protein_id": "XP_047290245.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 1103,
"cds_start": 562,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "n.2235G>A",
"hgvs_p": null,
"transcript": "XR_007064889.1",
"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": "XR_007064889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "n.2269G>A",
"hgvs_p": null,
"transcript": "XR_007064890.1",
"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": "XR_007064890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"hgvs_c": "n.2244G>A",
"hgvs_p": null,
"transcript": "XR_246305.5",
"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_246305.5"
}
],
"gene_symbol": "ZMYM4",
"gene_hgnc_id": 13055,
"dbsnp": "rs764143561",
"frequency_reference_population": 0.0000012390576,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84054e-7,
"gnomad_genomes_af": 0.0000065678,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20033517479896545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.1175,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.714,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375653.1",
"gene_symbol": "ZMYM4",
"hgnc_id": 13055,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Val636Ile"
}
],
"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
}