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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: 13-114282078-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=114282078&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 114282078,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_023011.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_023011.4",
"protein_id": "NP_075387.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 476,
"cds_start": 265,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375299.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023011.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000375299.8",
"protein_id": "ENSP00000364448.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 476,
"cds_start": 265,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023011.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375299.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000351487.5",
"protein_id": "ENSP00000329592.5",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 443,
"cds_start": 265,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351487.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000966313.1",
"protein_id": "ENSP00000636372.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 518,
"cds_start": 265,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966313.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000880099.1",
"protein_id": "ENSP00000550158.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 472,
"cds_start": 265,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880099.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000915713.1",
"protein_id": "ENSP00000585772.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 470,
"cds_start": 265,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915713.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000966312.1",
"protein_id": "ENSP00000636370.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 462,
"cds_start": 265,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966312.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000915714.1",
"protein_id": "ENSP00000585773.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 458,
"cds_start": 265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915714.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_080687.3",
"protein_id": "NP_542418.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 443,
"cds_start": 265,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080687.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000915715.1",
"protein_id": "ENSP00000585774.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 439,
"cds_start": 265,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915715.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000915711.1",
"protein_id": "ENSP00000585770.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 406,
"cds_start": 265,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915711.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000915712.1",
"protein_id": "ENSP00000585771.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 324,
"cds_start": 265,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915712.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001353651.2",
"protein_id": "NP_001340580.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 251,
"cds_start": 265,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353651.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000880098.1",
"protein_id": "ENSP00000550157.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 245,
"cds_start": 265,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880098.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "NM_001353652.2",
"protein_id": "NP_001340581.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 215,
"cds_start": 265,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353652.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000492270.1",
"protein_id": "ENSP00000482320.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 105,
"cds_start": 265,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492270.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "XM_011534844.2",
"protein_id": "XP_011533146.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 406,
"cds_start": 265,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534844.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "XM_011534846.2",
"protein_id": "XP_011533148.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 315,
"cds_start": 265,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534846.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "XM_047430546.1",
"protein_id": "XP_047286502.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 287,
"cds_start": 265,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430546.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "XM_047430547.1",
"protein_id": "XP_047286503.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 284,
"cds_start": 265,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430547.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "XM_024449402.2",
"protein_id": "XP_024305170.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 261,
"cds_start": 265,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449402.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPF3A",
"gene_hgnc_id": 20332,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "XM_047430549.1",
"protein_id": "XP_047286505.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 254,
"cds_start": 265,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430549.1"
},
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{
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{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.00386e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20294401049613953,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.756,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_023011.4",
"gene_symbol": "UPF3A",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Arg89Gly"
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000809312.1",
"gene_symbol": "ENSG00000289904",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.90G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}