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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: 22-41526255-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41526255&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41526255,
"ref": "AC",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001098.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "NM_001018050.4",
"protein_id": "NP_001018060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355209.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018050.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "ENST00000355209.9",
"protein_id": "ENSP00000347345.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018050.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355209.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1762-4delC",
"hgvs_p": null,
"transcript": "NM_001098.3",
"protein_id": "NP_001089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216254.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1762-4delC",
"hgvs_p": null,
"transcript": "ENST00000216254.9",
"protein_id": "ENSP00000216254.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216254.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "NM_001282884.2",
"protein_id": "NP_001269813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282884.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "NM_001282885.2",
"protein_id": "NP_001269814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282885.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "NM_138338.5",
"protein_id": "NP_612211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138338.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "ENST00000396504.6",
"protein_id": "ENSP00000379761.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396504.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "ENST00000953962.1",
"protein_id": "ENSP00000624021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR3H",
"gene_hgnc_id": 30349,
"hgvs_c": "c.*3027delG",
"hgvs_p": null,
"transcript": "NM_001018052.4",
"protein_id": "NP_001018062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018052.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1978-4delC",
"hgvs_p": null,
"transcript": "ENST00000878390.1",
"protein_id": "ENSP00000548449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": null,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1762-4delC",
"hgvs_p": null,
"transcript": "ENST00000878384.1",
"protein_id": "ENSP00000548443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": null,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1837-4delC",
"hgvs_p": null,
"transcript": "ENST00000396512.3",
"protein_id": "ENSP00000379769.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396512.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1837-4delC",
"hgvs_p": null,
"transcript": "ENST00000678269.1",
"protein_id": "ENSP00000504150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1762-4delC",
"hgvs_p": null,
"transcript": "ENST00000878386.1",
"protein_id": "ENSP00000548445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1762-4delC",
"hgvs_p": null,
"transcript": "ENST00000923520.1",
"protein_id": "ENSP00000593579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1786-4delC",
"hgvs_p": null,
"transcript": "ENST00000677532.1",
"protein_id": "ENSP00000503471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1759-4delC",
"hgvs_p": null,
"transcript": "ENST00000953703.1",
"protein_id": "ENSP00000623762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1756-4delC",
"hgvs_p": null,
"transcript": "ENST00000878389.1",
"protein_id": "ENSP00000548448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": null,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1756-4delC",
"hgvs_p": null,
"transcript": "ENST00000953708.1",
"protein_id": "ENSP00000623767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": null,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1762-4delC",
"hgvs_p": null,
"transcript": "ENST00000953707.1",
"protein_id": "ENSP00000623766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": null,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1747-4delC",
"hgvs_p": null,
"transcript": "ENST00000678788.1",
"protein_id": "ENSP00000504684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": null,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677698.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
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"feature": "ENST00000678394.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"intron_variant"
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"gene_symbol": "ACO2",
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"transcript": "ENST00000678600.1",
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"feature": "ENST00000678600.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"intron_variant"
],
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"exon_count": 19,
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"gene_symbol": "ACO2",
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"hgvs_c": "n.*998-4delC",
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"transcript": "ENST00000678688.1",
"protein_id": "ENSP00000503990.1",
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678688.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
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"gene_symbol": "ACO2",
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"hgvs_c": "n.*1625-4delC",
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"transcript": "ENST00000678819.1",
"protein_id": "ENSP00000503199.1",
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"feature": "ENST00000678819.1"
},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "ACO2",
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"hgvs_c": "n.2743-4delC",
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"transcript": "ENST00000679264.1",
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{
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"intron_variant"
],
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"gene_symbol": "ACO2",
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"transcript": "ENST00000679284.1",
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"feature": "ENST00000679284.1"
},
{
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"strand": true,
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"splice_region_variant",
"intron_variant"
],
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"gene_symbol": "ACO2",
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"transcript": "ENST00000679311.1",
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"biotype": "retained_intron",
"feature": "ENST00000679311.1"
},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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"gene_symbol": "ACO2",
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"hgvs_c": "n.1762-4delC",
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"transcript": "ENST00000679320.1",
"protein_id": "ENSP00000504780.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679320.1"
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],
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"dbsnp": "rs777598531",
"frequency_reference_population": 0.0000012422267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85769e-7,
"gnomad_genomes_af": 0.00000658779,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.035,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098.3",
"gene_symbol": "ACO2",
"hgnc_id": 118,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.1762-4delC",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138338.5",
"gene_symbol": "POLR3H",
"hgnc_id": 30349,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*3027delG",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}