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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: 22-41526469-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41526469&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41526469,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_138338.5",
"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.*2814A>G",
"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": 4468,
"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.*2814A>G",
"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": 4468,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1953+16T>C",
"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": 2734,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1953+16T>C",
"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": 2734,
"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.*2814A>G",
"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": 4215,
"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.*2814A>G",
"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": 4155,
"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.*2814A>G",
"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": 4162,
"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.*2814A>G",
"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": 4176,
"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.*2814A>G",
"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": 4475,
"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.*2814A>G",
"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": 4381,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2169+16T>C",
"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,
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"cds_length": 2559,
"cdna_start": null,
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"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878390.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
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"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1953+16T>C",
"hgvs_p": null,
"transcript": "ENST00000878384.1",
"protein_id": "ENSP00000548443.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 807,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878384.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.2028+16T>C",
"hgvs_p": null,
"transcript": "ENST00000396512.3",
"protein_id": "ENSP00000379769.3",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 805,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 15,
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"gene_symbol": "ACO2",
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"hgvs_c": "c.2028+16T>C",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1953+16T>C",
"hgvs_p": null,
"transcript": "ENST00000878386.1",
"protein_id": "ENSP00000548445.1",
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"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": "ENST00000878386.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"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": "c.1953+16T>C",
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"transcript": "ENST00000923520.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1977+16T>C",
"hgvs_p": null,
"transcript": "ENST00000677532.1",
"protein_id": "ENSP00000503471.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000677532.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1950+16T>C",
"hgvs_p": null,
"transcript": "ENST00000953703.1",
"protein_id": "ENSP00000623762.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1947+16T>C",
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"transcript": "ENST00000878389.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "ACO2",
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"hgvs_c": "c.1947+16T>C",
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"transcript": "ENST00000953708.1",
"protein_id": "ENSP00000623767.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1953+16T>C",
"hgvs_p": null,
"transcript": "ENST00000953707.1",
"protein_id": "ENSP00000623766.1",
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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": "ENST00000953707.1"
},
{
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.1938+16T>C",
"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,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678788.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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{
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],
"gene_symbol": "POLR3H",
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"dbsnp": "rs542512553",
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"hom_count_reference_population": 1,
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"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.61,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_138338.5",
"gene_symbol": "POLR3H",
"hgnc_id": 30349,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*2814A>G",
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},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001098.3",
"gene_symbol": "ACO2",
"hgnc_id": 118,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,Unknown,SD",
"hgvs_c": "c.1953+16T>C",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}