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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: 3-47855286-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47855286&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47855286,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385682.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6658G>A",
"hgvs_p": "p.Asp2220Asn",
"transcript": "NM_001385682.1",
"protein_id": "NP_001372611.1",
"transcript_support_level": null,
"aa_start": 2220,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6658,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683076.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385682.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6658G>A",
"hgvs_p": "p.Asp2220Asn",
"transcript": "ENST00000683076.1",
"protein_id": "ENSP00000507895.1",
"transcript_support_level": null,
"aa_start": 2220,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6658,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385682.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683076.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3223G>A",
"hgvs_p": "p.Asp1075Asn",
"transcript": "ENST00000360240.10",
"protein_id": "ENSP00000353375.6",
"transcript_support_level": 1,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360240.10"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Asp416Asn",
"transcript": "ENST00000429422.5",
"protein_id": "ENSP00000416743.1",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 492,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429422.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6658G>A",
"hgvs_p": "p.Asp2220Asn",
"transcript": "ENST00000426837.6",
"protein_id": "ENSP00000407602.2",
"transcript_support_level": 5,
"aa_start": 2220,
"aa_end": null,
"aa_length": 2297,
"cds_start": 6658,
"cds_end": null,
"cds_length": 6894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426837.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6658G>A",
"hgvs_p": "p.Asp2220Asn",
"transcript": "NM_001385687.1",
"protein_id": "NP_001372616.1",
"transcript_support_level": null,
"aa_start": 2220,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6658,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385687.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6607G>A",
"hgvs_p": "p.Asp2203Asn",
"transcript": "ENST00000972337.1",
"protein_id": "ENSP00000642396.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2280,
"cds_start": 6607,
"cds_end": null,
"cds_length": 6843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972337.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6607G>A",
"hgvs_p": "p.Asp2203Asn",
"transcript": "ENST00000922519.1",
"protein_id": "ENSP00000592578.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2279,
"cds_start": 6607,
"cds_end": null,
"cds_length": 6840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922519.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6607G>A",
"hgvs_p": "p.Asp2203Asn",
"transcript": "ENST00000972351.1",
"protein_id": "ENSP00000642410.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2279,
"cds_start": 6607,
"cds_end": null,
"cds_length": 6840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972351.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6595G>A",
"hgvs_p": "p.Asp2199Asn",
"transcript": "ENST00000972333.1",
"protein_id": "ENSP00000642392.1",
"transcript_support_level": null,
"aa_start": 2199,
"aa_end": null,
"aa_length": 2275,
"cds_start": 6595,
"cds_end": null,
"cds_length": 6828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972333.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"transcript": "NM_001385689.1",
"protein_id": "NP_001372618.1",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6544,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385689.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"transcript": "ENST00000972344.1",
"protein_id": "ENSP00000642403.1",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6544,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972344.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"transcript": "ENST00000972345.1",
"protein_id": "ENSP00000642404.1",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6544,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972345.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6544G>A",
"hgvs_p": "p.Asp2182Asn",
"transcript": "ENST00000972359.1",
"protein_id": "ENSP00000642418.1",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 2258,
"cds_start": 6544,
"cds_end": null,
"cds_length": 6777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972359.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6493G>A",
"hgvs_p": "p.Asp2165Asn",
"transcript": "ENST00000972339.1",
"protein_id": "ENSP00000642398.1",
"transcript_support_level": null,
"aa_start": 2165,
"aa_end": null,
"aa_length": 2241,
"cds_start": 6493,
"cds_end": null,
"cds_length": 6726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972339.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6424G>A",
"hgvs_p": "p.Asp2142Asn",
"transcript": "NM_001385664.1",
"protein_id": "NP_001372593.1",
"transcript_support_level": null,
"aa_start": 2142,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6424,
"cds_end": null,
"cds_length": 6660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385664.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.6427G>A",
"hgvs_p": "p.Asp2143Asn",
"transcript": "NM_001385688.1",
"protein_id": "NP_001372617.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6427,
"cds_end": null,
"cds_length": 6660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385688.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Asp1104Asn",
"transcript": "NM_001384745.1",
"protein_id": "NP_001371674.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384745.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Asp1104Asn",
"transcript": "NM_001384795.1",
"protein_id": "NP_001371724.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384795.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3274G>A",
"hgvs_p": "p.Asp1092Asn",
"transcript": "NM_001384736.1",
"protein_id": "NP_001371665.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384736.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3274G>A",
"hgvs_p": "p.Asp1092Asn",
"transcript": "NM_001384788.1",
"protein_id": "NP_001371717.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384788.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.3274G>A",
"hgvs_p": "p.Asp1092Asn",
"transcript": "NM_001385686.1",
"protein_id": "NP_001372615.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1168,
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"gene_symbol": "MAP4",
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"hgvs_c": "c.3003+13G>A",
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"transcript": "ENST00000922521.1",
"protein_id": "ENSP00000592580.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1065,
"cds_start": null,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922521.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1464+13G>A",
"hgvs_p": null,
"transcript": "ENST00000922520.1",
"protein_id": "ENSP00000592579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "n.123G>A",
"hgvs_p": null,
"transcript": "ENST00000477765.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000477765.1"
}
],
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"dbsnp": "rs139009148",
"frequency_reference_population": 0.000012391082,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000116293,
"gnomad_genomes_af": 0.0000197055,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7954701781272888,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.669,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9257,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.071,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001385682.1",
"gene_symbol": "MAP4",
"hgnc_id": 6862,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.6658G>A",
"hgvs_p": "p.Asp2220Asn"
}
],
"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
}