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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: 5-36680454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=36680454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 36680454,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265113.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_004172.5",
"protein_id": "NP_004163.3",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": "ENST00000265113.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000265113.9",
"protein_id": "ENSP00000265113.4",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": "NM_004172.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000381918.4",
"protein_id": "ENSP00000371343.4",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "NM_001438458.1",
"protein_id": "NP_001425387.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 589,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1295G>A",
"hgvs_p": "p.Arg432His",
"transcript": "ENST00000680232.1",
"protein_id": "ENSP00000506207.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 589,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001438454.1",
"protein_id": "NP_001425383.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001438455.1",
"protein_id": "NP_001425384.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001438456.1",
"protein_id": "NP_001425385.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001438457.1",
"protein_id": "NP_001425386.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000679983.1",
"protein_id": "ENSP00000505238.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000679992.1",
"protein_id": "ENSP00000506585.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000680318.1",
"protein_id": "ENSP00000505057.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 542,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001166695.3",
"protein_id": "NP_001160167.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 497,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001438459.1",
"protein_id": "NP_001425388.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
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"cds_start": 1154,
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"cdna_start": 1467,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000680125.1",
"protein_id": "ENSP00000506424.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 497,
"cds_start": 1154,
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"cds_length": 1494,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000681926.1",
"protein_id": "ENSP00000505850.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
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"cds_start": 1154,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "NM_001289939.2",
"protein_id": "NP_001276868.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 496,
"cds_start": 1016,
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"cds_length": 1491,
"cdna_start": 1241,
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"cdna_length": 3781,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000613445.5",
"protein_id": "ENSP00000477672.1",
"transcript_support_level": 5,
"aa_start": 339,
"aa_end": null,
"aa_length": 496,
"cds_start": 1016,
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"cdna_start": 1305,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000681909.1",
"protein_id": "ENSP00000506599.1",
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"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291His",
"transcript": "NM_001438460.1",
"protein_id": "NP_001425389.1",
"transcript_support_level": null,
"aa_start": 291,
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"aa_length": 448,
"cds_start": 872,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "NM_001438461.1",
"protein_id": "NP_001425390.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 442,
"cds_start": 854,
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"cds_length": 1329,
"cdna_start": 1549,
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"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "NM_001438462.1",
"protein_id": "NP_001425391.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 435,
"cds_start": 833,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
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{
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}
],
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"dbsnp": "rs115702388",
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"hom_count_reference_population": 1,
"allele_count_reference_population": 236,
"gnomad_exomes_af": 0.000103292,
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"gnomad_exomes_ac": 151,
"gnomad_genomes_ac": 85,
"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.03596854209899902,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.398,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7481,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.182,
"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,
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"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000265113.9",
"gene_symbol": "SLC1A3",
"hgnc_id": 10941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000510740.2",
"gene_symbol": "SLC1A3-AS1",
"hgnc_id": 56374,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.106-11743C>T",
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}
],
"clinvar_disease": "Episodic ataxia type 6,Spastic ataxia,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "Episodic ataxia type 6|Spastic ataxia|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}