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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: 11-793587-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=793587&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 793587,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000628067.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001191061.2",
"protein_id": "NP_001177990.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "ENST00000628067.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000628067.3",
"protein_id": "ENSP00000486058.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": "NM_001191061.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000320230.9",
"protein_id": "ENSP00000322020.5",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.310G>A",
"hgvs_p": "p.Glu104Lys",
"transcript": "NM_001425334.1",
"protein_id": "NP_001412263.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 348,
"cds_start": 310,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425335.1",
"protein_id": "NP_001412264.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 336,
"cds_start": 235,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425336.1",
"protein_id": "NP_001412265.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 328,
"cds_start": 235,
"cds_end": null,
"cds_length": 987,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001191060.2",
"protein_id": "NP_001177989.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425337.1",
"protein_id": "NP_001412266.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425338.1",
"protein_id": "NP_001412267.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425339.1",
"protein_id": "NP_001412268.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_024698.6",
"protein_id": "NP_078974.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000531214.5",
"protein_id": "ENSP00000437236.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 323,
"cds_start": 235,
"cds_end": null,
"cds_length": 972,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.232G>A",
"hgvs_p": "p.Glu78Lys",
"transcript": "NM_001425340.1",
"protein_id": "NP_001412269.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 322,
"cds_start": 232,
"cds_end": null,
"cds_length": 969,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.223G>A",
"hgvs_p": "p.Glu75Lys",
"transcript": "NM_001425341.1",
"protein_id": "NP_001412270.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 319,
"cds_start": 223,
"cds_end": null,
"cds_length": 960,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.310G>A",
"hgvs_p": "p.Glu104Lys",
"transcript": "ENST00000481290.5",
"protein_id": "ENSP00000431829.2",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 312,
"cds_start": 310,
"cds_end": null,
"cds_length": 939,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425342.1",
"protein_id": "NP_001412271.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 283,
"cds_start": 235,
"cds_end": null,
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"cdna_start": 463,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "NM_001425343.1",
"protein_id": "NP_001412272.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 270,
"cds_start": 235,
"cds_end": null,
"cds_length": 813,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000627843.2",
"protein_id": "ENSP00000486512.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 246,
"cds_start": 235,
"cds_end": null,
"cds_length": 741,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000625419.2",
"protein_id": "ENSP00000485719.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
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"cds_start": 235,
"cds_end": null,
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"cdna_start": 460,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.223G>A",
"hgvs_p": "p.Glu75Lys",
"transcript": "ENST00000531437.5",
"protein_id": "ENSP00000435862.1",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 195,
"cds_start": 223,
"cds_end": null,
"cds_length": 589,
"cdna_start": 436,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000532484.5",
"protein_id": "ENSP00000431466.2",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 189,
"cds_start": 235,
"cds_end": null,
"cds_length": 570,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000528606.5",
"protein_id": "ENSP00000437045.2",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 176,
"cds_start": 235,
"cds_end": null,
"cds_length": 531,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.235G>A",
"hgvs_p": "p.Glu79Lys",
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"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "n.*21G>A",
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"transcript": "ENST00000529351.5",
"protein_id": "ENSP00000432222.1",
"transcript_support_level": 5,
"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": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "n.*21G>A",
"hgvs_p": null,
"transcript": "ENST00000531514.5",
"protein_id": "ENSP00000433780.2",
"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": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"dbsnp": "rs1215087087",
"frequency_reference_population": 0.0000020555633,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205556,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8002525568008423,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.961,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000628067.3",
"gene_symbol": "SLC25A22",
"hgnc_id": 19954,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Glu79Lys"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}