← 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: 6-118924038-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=118924038&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 118924038,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000619706.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_017696.3",
"protein_id": "NP_060166.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1143,
"cds_start": 394,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": "ENST00000619706.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "ENST00000619706.5",
"protein_id": "ENSP00000480469.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 1143,
"cds_start": 394,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": "NM_017696.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "ENST00000316068.7",
"protein_id": "ENSP00000312870.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 391,
"cds_start": 394,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378356.1",
"protein_id": "NP_001365285.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1143,
"cds_start": 394,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378357.1",
"protein_id": "NP_001365286.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1143,
"cds_start": 394,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "ENST00000316316.10",
"protein_id": "ENSP00000314505.5",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 1143,
"cds_start": 394,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378364.1",
"protein_id": "NP_001365293.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1075,
"cds_start": 394,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378365.1",
"protein_id": "NP_001365294.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 661,
"cds_start": 394,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378359.1",
"protein_id": "NP_001365288.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 648,
"cds_start": 394,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378360.1",
"protein_id": "NP_001365289.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 648,
"cds_start": 394,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378366.1",
"protein_id": "NP_001365295.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 606,
"cds_start": 394,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Arg",
"transcript": "NM_001378367.1",
"protein_id": "NP_001365296.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 582,
"cds_start": 196,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378358.1",
"protein_id": "NP_001365287.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 391,
"cds_start": 394,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_153255.5",
"protein_id": "NP_694987.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 391,
"cds_start": 394,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378368.1",
"protein_id": "NP_001365297.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 349,
"cds_start": 394,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Arg",
"transcript": "NM_001378361.1",
"protein_id": "NP_001365290.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 325,
"cds_start": 196,
"cds_end": null,
"cds_length": 978,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Arg",
"transcript": "NM_001378362.1",
"protein_id": "NP_001365291.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 325,
"cds_start": 196,
"cds_end": null,
"cds_length": 978,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Arg",
"transcript": "NM_001378363.1",
"protein_id": "NP_001365292.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 325,
"cds_start": 196,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378369.1",
"protein_id": "NP_001365298.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 312,
"cds_start": 394,
"cds_end": null,
"cds_length": 939,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Arg",
"transcript": "NM_001378370.1",
"protein_id": "NP_001365299.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 283,
"cds_start": 196,
"cds_end": null,
"cds_length": 852,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "NM_001378371.1",
"protein_id": "NP_001365300.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 260,
"cds_start": 394,
"cds_end": null,
"cds_length": 783,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Arg",
"transcript": "NM_001378372.1",
"protein_id": "NP_001365301.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 246,
"cds_start": 196,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg",
"transcript": "ENST00000425154.6",
"protein_id": "ENSP00000394776.2",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 155,
"cds_start": 394,
"cds_end": null,
"cds_length": 469,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 752,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "n.15C>A",
"hgvs_p": null,
"transcript": "ENST00000436788.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 7592,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "n.678C>A",
"hgvs_p": null,
"transcript": "NR_165493.1",
"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": 4910,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"hgvs_c": "n.812C>A",
"hgvs_p": null,
"transcript": "NR_165494.1",
"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": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCM9",
"gene_hgnc_id": 21484,
"dbsnp": "rs587777872",
"frequency_reference_population": 6.8405257e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.253,
"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": 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": "ENST00000619706.5",
"gene_symbol": "MCM9",
"hgnc_id": 21484,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}