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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: 15-89306130-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89306130&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89306130,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001113378.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113378.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310775.12"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3473,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674831.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3497G>T",
"hgvs_p": "p.Cys1166Phe",
"transcript": "ENST00000940814.1",
"protein_id": "ENSP00000610873.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3497,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940814.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376911.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696719.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000886451.1",
"protein_id": "ENSP00000556509.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886451.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000886459.1",
"protein_id": "ENSP00000556518.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886459.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000886461.1",
"protein_id": "ENSP00000556520.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886461.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000886463.1",
"protein_id": "ENSP00000556522.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886463.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940788.1",
"protein_id": "ENSP00000610847.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940788.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940789.1",
"protein_id": "ENSP00000610848.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940789.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940790.1",
"protein_id": "ENSP00000610849.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940790.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940794.1",
"protein_id": "ENSP00000610853.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940794.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940795.1",
"protein_id": "ENSP00000610854.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940795.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940796.1",
"protein_id": "ENSP00000610855.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940796.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940798.1",
"protein_id": "ENSP00000610857.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940798.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940799.1",
"protein_id": "ENSP00000610858.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940799.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940805.1",
"protein_id": "ENSP00000610864.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940805.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940809.1",
"protein_id": "ENSP00000610868.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940809.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940817.1",
"protein_id": "ENSP00000610876.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940817.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe",
"transcript": "ENST00000940818.1",
"protein_id": "ENSP00000610877.1",
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{
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{
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"non_coding_transcript_exon_variant"
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{
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"protein_coding": false,
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{
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"gene_symbol": "FANCI",
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"transcript": "ENST00000447611.6",
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"biotype": "nonsense_mediated_decay",
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{
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"intron_variant"
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"gene_symbol": "FANCI",
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"biotype": "pseudogene",
"feature": "ENST00000565522.5"
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],
"gene_symbol": "FANCI",
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"dbsnp": "rs199502679",
"frequency_reference_population": 0.000053897467,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000465154,
"gnomad_genomes_af": 0.000124759,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49497175216674805,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.821,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3395,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.055,
"phylop100way_prediction": "Pathogenic",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001113378.2",
"gene_symbol": "FANCI",
"hgnc_id": 25568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Cys1158Phe"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000635831.1",
"gene_symbol": "POLG",
"hgnc_id": 9179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*46-906C>A",
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}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group I,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group I|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}