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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: 11-793555-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=793555&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 793555,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000628067.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001191061.2",
"protein_id": "NP_001177990.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "ENST00000628067.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000628067.3",
"protein_id": "ENSP00000486058.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "NM_001191061.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000320230.9",
"protein_id": "ENSP00000322020.5",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Phe114Phe",
"transcript": "NM_001425334.1",
"protein_id": "NP_001412263.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 348,
"cds_start": 342,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425335.1",
"protein_id": "NP_001412264.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 336,
"cds_start": 267,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425336.1",
"protein_id": "NP_001412265.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 328,
"cds_start": 267,
"cds_end": null,
"cds_length": 987,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001191060.2",
"protein_id": "NP_001177989.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425337.1",
"protein_id": "NP_001412266.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425338.1",
"protein_id": "NP_001412267.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425339.1",
"protein_id": "NP_001412268.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_024698.6",
"protein_id": "NP_078974.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000531214.5",
"protein_id": "ENSP00000437236.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 323,
"cds_start": 267,
"cds_end": null,
"cds_length": 972,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Phe88Phe",
"transcript": "NM_001425340.1",
"protein_id": "NP_001412269.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 322,
"cds_start": 264,
"cds_end": null,
"cds_length": 969,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.255C>T",
"hgvs_p": "p.Phe85Phe",
"transcript": "NM_001425341.1",
"protein_id": "NP_001412270.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 319,
"cds_start": 255,
"cds_end": null,
"cds_length": 960,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Phe114Phe",
"transcript": "ENST00000481290.5",
"protein_id": "ENSP00000431829.2",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 312,
"cds_start": 342,
"cds_end": null,
"cds_length": 939,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425342.1",
"protein_id": "NP_001412271.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 283,
"cds_start": 267,
"cds_end": null,
"cds_length": 852,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "NM_001425343.1",
"protein_id": "NP_001412272.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 270,
"cds_start": 267,
"cds_end": null,
"cds_length": 813,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000627843.2",
"protein_id": "ENSP00000486512.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 246,
"cds_start": 267,
"cds_end": null,
"cds_length": 741,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000625419.2",
"protein_id": "ENSP00000485719.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 196,
"cds_start": 267,
"cds_end": null,
"cds_length": 591,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.255C>T",
"hgvs_p": "p.Phe85Phe",
"transcript": "ENST00000531437.5",
"protein_id": "ENSP00000435862.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 195,
"cds_start": 255,
"cds_end": null,
"cds_length": 589,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000532484.5",
"protein_id": "ENSP00000431466.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 267,
"cds_end": null,
"cds_length": 570,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe",
"transcript": "ENST00000528606.5",
"protein_id": "ENSP00000437045.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 176,
"cds_start": 267,
"cds_end": null,
"cds_length": 531,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"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": "SLC25A22",
"gene_hgnc_id": 19954,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC25A22",
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"transcript": "ENST00000529066.5",
"protein_id": "ENSP00000433028.1",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_length": 558,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC25A22",
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"hgvs_c": "n.*22C>T",
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"transcript": "ENST00000625316.2",
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"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 608,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"dbsnp": "rs143064022",
"frequency_reference_population": 0.0000034217326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342173,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"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": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.723,
"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": "ENST00000628067.3",
"gene_symbol": "SLC25A22",
"hgnc_id": 19954,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Phe89Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}