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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: 6-157207398-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157207398&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157207398,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000636930.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6626T>G",
"hgvs_p": "p.Leu2209Arg",
"transcript": "NM_001374828.1",
"protein_id": "NP_001361757.1",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2372,
"cds_start": 6626,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 6929,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "ENST00000636930.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6626T>G",
"hgvs_p": "p.Leu2209Arg",
"transcript": "ENST00000636930.2",
"protein_id": "ENSP00000490491.2",
"transcript_support_level": 2,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2372,
"cds_start": 6626,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 6929,
"cdna_end": null,
"cdna_length": 10310,
"mane_select": "NM_001374828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6506T>G",
"hgvs_p": "p.Leu2169Arg",
"transcript": "ENST00000346085.10",
"protein_id": "ENSP00000344546.5",
"transcript_support_level": 1,
"aa_start": 2169,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6506,
"cds_end": null,
"cds_length": 6999,
"cdna_start": 7432,
"cdna_end": null,
"cdna_length": 10813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6467T>G",
"hgvs_p": "p.Leu2156Arg",
"transcript": "ENST00000350026.11",
"protein_id": "ENSP00000055163.8",
"transcript_support_level": 1,
"aa_start": 2156,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6467,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6467,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3968T>G",
"hgvs_p": "p.Leu1323Arg",
"transcript": "ENST00000637810.1",
"protein_id": "ENSP00000489636.1",
"transcript_support_level": 1,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3968,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6755T>G",
"hgvs_p": "p.Leu2252Arg",
"transcript": "NM_001438482.1",
"protein_id": "NP_001425411.1",
"transcript_support_level": null,
"aa_start": 2252,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6755,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 7058,
"cdna_end": null,
"cdna_length": 10439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6755T>G",
"hgvs_p": "p.Leu2252Arg",
"transcript": "ENST00000637015.2",
"protein_id": "ENSP00000489729.2",
"transcript_support_level": 5,
"aa_start": 2252,
"aa_end": null,
"aa_length": 2415,
"cds_start": 6755,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 6755,
"cdna_end": null,
"cdna_length": 8616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6668T>G",
"hgvs_p": "p.Leu2223Arg",
"transcript": "NM_001438483.1",
"protein_id": "NP_001425412.1",
"transcript_support_level": null,
"aa_start": 2223,
"aa_end": null,
"aa_length": 2386,
"cds_start": 6668,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 6971,
"cdna_end": null,
"cdna_length": 10352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6536T>G",
"hgvs_p": "p.Leu2179Arg",
"transcript": "NM_001438485.1",
"protein_id": "NP_001425414.1",
"transcript_support_level": null,
"aa_start": 2179,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6536,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6839,
"cdna_end": null,
"cdna_length": 10220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6536T>G",
"hgvs_p": "p.Leu2179Arg",
"transcript": "ENST00000414678.8",
"protein_id": "ENSP00000412835.3",
"transcript_support_level": 5,
"aa_start": 2179,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6536,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 6536,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6509T>G",
"hgvs_p": "p.Leu2170Arg",
"transcript": "NM_001438486.1",
"protein_id": "NP_001425415.1",
"transcript_support_level": null,
"aa_start": 2170,
"aa_end": null,
"aa_length": 2333,
"cds_start": 6509,
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"cds_length": 7002,
"cdna_start": 6812,
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"cdna_length": 10193,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6506T>G",
"hgvs_p": "p.Leu2169Arg",
"transcript": "NM_001371656.1",
"protein_id": "NP_001358585.1",
"transcript_support_level": null,
"aa_start": 2169,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6506,
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"cdna_start": 7426,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6506T>G",
"hgvs_p": "p.Leu2169Arg",
"transcript": "NM_001374820.1",
"protein_id": "NP_001361749.1",
"transcript_support_level": null,
"aa_start": 2169,
"aa_end": null,
"aa_length": 2332,
"cds_start": 6506,
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"cdna_start": 6809,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6467T>G",
"hgvs_p": "p.Leu2156Arg",
"transcript": "NM_017519.3",
"protein_id": "NP_059989.3",
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},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6446T>G",
"hgvs_p": "p.Leu2149Arg",
"transcript": "NM_001438487.1",
"protein_id": "NP_001425416.1",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2312,
"cds_start": 6446,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4127T>G",
"hgvs_p": "p.Leu1376Arg",
"transcript": "NM_001363725.2",
"protein_id": "NP_001350654.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.4127T>G",
"hgvs_p": "p.Leu1376Arg",
"transcript": "ENST00000637904.1",
"protein_id": "ENSP00000490550.1",
"transcript_support_level": 5,
"aa_start": 1376,
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"aa_length": 1539,
"cds_start": 4127,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3968T>G",
"hgvs_p": "p.Leu1323Arg",
"transcript": "NM_001438488.1",
"protein_id": "NP_001425417.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1486,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3947T>G",
"hgvs_p": "p.Leu1316Arg",
"transcript": "ENST00000635849.1",
"protein_id": "ENSP00000490948.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.3578T>G",
"hgvs_p": "p.Leu1193Arg",
"transcript": "ENST00000635957.1",
"protein_id": "ENSP00000490385.1",
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},
{
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"consequences": [
"missense_variant"
],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.782T>G",
"hgvs_p": "p.Leu261Arg",
"transcript": "ENST00000635928.1",
"protein_id": "ENSP00000489717.1",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 312,
"cds_start": 782,
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"cdna_start": 782,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID1B",
"gene_hgnc_id": 18040,
"hgvs_c": "c.6836T>G",
"hgvs_p": "p.Leu2279Arg",
"transcript": "XM_011535984.3",
"protein_id": "XP_011534286.3",
"transcript_support_level": null,
"aa_start": 2279,
"aa_end": null,
"aa_length": 2442,
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"cdna_start": 7139,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
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{
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},
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{
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},
{
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"3_prime_UTR_variant"
],
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}
],
"gene_symbol": "ARID1B",
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"dbsnp": "rs1554237999",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8791105151176453,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.848,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.943,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000636930.2",
"gene_symbol": "ARID1B",
"hgnc_id": 18040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6626T>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}