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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: 2-63599394-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63599394&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63599394,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001316374.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "NM_005917.4",
"protein_id": "NP_005908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233114.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005917.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000233114.13",
"protein_id": "ENSP00000233114.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233114.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000906791.1",
"protein_id": "ENSP00000576850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "NM_001316374.2",
"protein_id": "NP_001303303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316374.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000539945.7",
"protein_id": "ENSP00000438144.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539945.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.552+102T>A",
"hgvs_p": null,
"transcript": "NM_001199111.2",
"protein_id": "NP_001186040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199111.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.552+102T>A",
"hgvs_p": null,
"transcript": "ENST00000432309.6",
"protein_id": "ENSP00000410073.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432309.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000967563.1",
"protein_id": "ENSP00000637622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000544381.4",
"protein_id": "ENSP00000446395.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544381.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.492+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920243.1",
"protein_id": "ENSP00000590302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920244.1",
"protein_id": "ENSP00000590303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
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"cds_length": 999,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920244.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920245.1",
"protein_id": "ENSP00000590304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000920245.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000906792.1",
"protein_id": "ENSP00000576851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": null,
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"cds_length": 996,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000906792.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.483+102T>A",
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"transcript": "ENST00000906785.1",
"protein_id": "ENSP00000576844.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000906785.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920251.1",
"protein_id": "ENSP00000590310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920251.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.429+102T>A",
"hgvs_p": null,
"transcript": "ENST00000906787.1",
"protein_id": "ENSP00000576846.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000906787.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920250.1",
"protein_id": "ENSP00000590309.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000920250.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.411+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920252.1",
"protein_id": "ENSP00000590311.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 305,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000920252.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.498+102T>A",
"hgvs_p": null,
"transcript": "ENST00000967564.1",
"protein_id": "ENSP00000637623.1",
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"biotype": "protein_coding",
"feature": "ENST00000967564.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.399+102T>A",
"hgvs_p": null,
"transcript": "ENST00000906783.1",
"protein_id": "ENSP00000576842.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000906783.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "MDH1",
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"hgvs_c": "c.399+102T>A",
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"transcript": "ENST00000920248.1",
"protein_id": "ENSP00000590307.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920248.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"hgvs_c": "c.390+102T>A",
"hgvs_p": null,
"transcript": "ENST00000920253.1",
"protein_id": "ENSP00000590312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": null,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MDH1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436321.5"
}
],
"gene_symbol": "MDH1",
"gene_hgnc_id": 6970,
"dbsnp": "rs7606045",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.976,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001316374.2",
"gene_symbol": "MDH1",
"hgnc_id": 6970,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.498+102T>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047444626.1",
"gene_symbol": "WDPCP",
"hgnc_id": 28027,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-249-27768A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}