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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: 12-56282455-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56282455&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56282455,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004077.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Tyr185His",
"transcript": "NM_004077.3",
"protein_id": "NP_004068.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 466,
"cds_start": 553,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351328.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004077.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Tyr185His",
"transcript": "ENST00000351328.8",
"protein_id": "ENSP00000342056.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 466,
"cds_start": 553,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004077.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351328.8"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Tyr119His",
"transcript": "ENST00000548567.5",
"protein_id": "ENSP00000446779.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 400,
"cds_start": 355,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548567.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Tyr185His",
"transcript": "ENST00000904225.1",
"protein_id": "ENSP00000574284.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 454,
"cds_start": 553,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904225.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Tyr172His",
"transcript": "ENST00000542324.6",
"protein_id": "ENSP00000440543.2",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 453,
"cds_start": 514,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542324.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.451T>C",
"hgvs_p": "p.Tyr151His",
"transcript": "ENST00000921536.1",
"protein_id": "ENSP00000591595.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 432,
"cds_start": 451,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921536.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000947273.1",
"protein_id": "ENSP00000617332.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 430,
"cds_start": 445,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947273.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Tyr132His",
"transcript": "ENST00000904224.1",
"protein_id": "ENSP00000574283.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 413,
"cds_start": 394,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904224.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Tyr149His",
"transcript": "ENST00000552688.5",
"protein_id": "ENSP00000447442.1",
"transcript_support_level": 4,
"aa_start": 149,
"aa_end": null,
"aa_length": 156,
"cds_start": 445,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552688.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Tyr119His",
"transcript": "ENST00000546930.5",
"protein_id": "ENSP00000450403.1",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 145,
"cds_start": 355,
"cds_end": null,
"cds_length": 439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546930.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Tyr119His",
"transcript": "ENST00000550734.5",
"protein_id": "ENSP00000449025.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 143,
"cds_start": 355,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550734.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Tyr119His",
"transcript": "ENST00000551936.5",
"protein_id": "ENSP00000450312.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 143,
"cds_start": 355,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551936.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Tyr119His",
"transcript": "ENST00000551253.5",
"protein_id": "ENSP00000450101.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 139,
"cds_start": 355,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551253.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.328T>C",
"hgvs_p": "p.Tyr110His",
"transcript": "ENST00000549221.5",
"protein_id": "ENSP00000448667.1",
"transcript_support_level": 4,
"aa_start": 110,
"aa_end": null,
"aa_length": 139,
"cds_start": 328,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549221.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Tyr119His",
"transcript": "ENST00000551473.5",
"protein_id": "ENSP00000449427.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 119,
"cds_start": 355,
"cds_end": null,
"cds_length": 362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551473.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.399+405T>C",
"hgvs_p": null,
"transcript": "ENST00000947272.1",
"protein_id": "ENSP00000617331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.267+1337T>C",
"hgvs_p": null,
"transcript": "ENST00000921535.1",
"protein_id": "ENSP00000591594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "c.399+405T>C",
"hgvs_p": null,
"transcript": "ENST00000548041.5",
"protein_id": "ENSP00000447986.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548041.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "n.528T>C",
"hgvs_p": null,
"transcript": "ENST00000546621.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000546621.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "n.445T>C",
"hgvs_p": null,
"transcript": "ENST00000546891.5",
"protein_id": "ENSP00000446492.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546891.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "n.316T>C",
"hgvs_p": null,
"transcript": "ENST00000547449.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CS",
"gene_hgnc_id": 2422,
"hgvs_c": "n.604T>C",
"hgvs_p": null,
"transcript": "ENST00000547912.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
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{
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{
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{
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{
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{
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],
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{
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"feature": "ENST00000551968.5"
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{
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],
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{
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{
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],
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"biotype": "protein_coding",
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],
"gene_symbol": "CS",
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"dbsnp": "rs756424958",
"frequency_reference_population": 0.0000013693547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136935,
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"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9261322021484375,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.632,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.886,
"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,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004077.3",
"gene_symbol": "CS",
"hgnc_id": 2422,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Tyr185His"
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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
}