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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: 11-794790-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=794790&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 794790,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000628067.3",
"consequences": [
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001191061.2",
"protein_id": "NP_001177990.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "ENST00000628067.3",
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000628067.3",
"protein_id": "ENSP00000486058.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "NM_001191061.2",
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000320230.9",
"protein_id": "ENSP00000322020.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2796,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "n.347C>T",
"hgvs_p": null,
"transcript": "ENST00000532361.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 970,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425334.1",
"protein_id": "NP_001412263.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 348,
"cds_start": 132,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2715,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425335.1",
"protein_id": "NP_001412264.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 336,
"cds_start": 132,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2679,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425336.1",
"protein_id": "NP_001412265.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 328,
"cds_start": 132,
"cds_end": null,
"cds_length": 987,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2655,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001191060.2",
"protein_id": "NP_001177989.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2962,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425337.1",
"protein_id": "NP_001412266.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2668,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425338.1",
"protein_id": "NP_001412267.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 2965,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425339.1",
"protein_id": "NP_001412268.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2635,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_024698.6",
"protein_id": "NP_078974.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2771,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000531214.5",
"protein_id": "ENSP00000437236.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 323,
"cds_start": 132,
"cds_end": null,
"cds_length": 972,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1790,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425340.1",
"protein_id": "NP_001412269.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 322,
"cds_start": 132,
"cds_end": null,
"cds_length": 969,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2637,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425341.1",
"protein_id": "NP_001412270.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 319,
"cds_start": 132,
"cds_end": null,
"cds_length": 960,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2628,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000481290.5",
"protein_id": "ENSP00000431829.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 312,
"cds_start": 132,
"cds_end": null,
"cds_length": 939,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1108,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425342.1",
"protein_id": "NP_001412271.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 283,
"cds_start": 132,
"cds_end": null,
"cds_length": 852,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2636,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "NM_001425343.1",
"protein_id": "NP_001412272.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 270,
"cds_start": 132,
"cds_end": null,
"cds_length": 813,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2633,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000627843.2",
"protein_id": "ENSP00000486512.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 246,
"cds_start": 132,
"cds_end": null,
"cds_length": 741,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1021,
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000625419.2",
"protein_id": "ENSP00000485719.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 196,
"cds_start": 132,
"cds_end": null,
"cds_length": 591,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 816,
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000531437.5",
"protein_id": "ENSP00000435862.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 195,
"cds_start": 132,
"cds_end": null,
"cds_length": 589,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 802,
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000532484.5",
"protein_id": "ENSP00000431466.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 189,
"cds_start": 132,
"cds_end": null,
"cds_length": 570,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 839,
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg",
"transcript": "ENST00000528606.5",
"protein_id": "ENSP00000437045.2",
"transcript_support_level": 5,
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"transcript": "ENST00000531514.5",
"protein_id": "ENSP00000433780.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 641,
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"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "n.453C>T",
"hgvs_p": null,
"transcript": "ENST00000532459.5",
"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": 578,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "n.490C>T",
"hgvs_p": null,
"transcript": "ENST00000625316.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "n.463C>T",
"hgvs_p": null,
"transcript": "ENST00000629602.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"transcript": "NM_001425344.1",
"protein_id": "NP_001412273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"dbsnp": "rs146402942",
"frequency_reference_population": 0.0014316518,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2288,
"gnomad_exomes_af": 0.0015009,
"gnomad_genomes_af": 0.000774532,
"gnomad_exomes_ac": 2170,
"gnomad_genomes_ac": 118,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.758,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000628067.3",
"gene_symbol": "SLC25A22",
"hgnc_id": 19954,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Arg44Arg"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Early myoclonic encephalopathy,Inborn genetic diseases,SLC25A22-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3 B:2",
"phenotype_combined": "not specified|Early myoclonic encephalopathy|Developmental and epileptic encephalopathy|not provided|Inborn genetic diseases|SLC25A22-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}