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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: 3-47240860-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47240860&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47240860,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001413976.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "NM_182902.4",
"protein_id": "NP_878905.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182902.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000684063.1",
"protein_id": "ENSP00000507186.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684063.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000452770.6",
"protein_id": "ENSP00000391100.2",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452770.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557Gln",
"transcript": "ENST00000444589.6",
"protein_id": "ENSP00000414987.2",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 725,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444589.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Arg655Gln",
"transcript": "NM_001413976.1",
"protein_id": "NP_001400905.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 823,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413976.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"transcript": "NM_001413975.1",
"protein_id": "NP_001400904.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 804,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413975.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "NM_001134878.3",
"protein_id": "NP_001128350.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134878.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000265529.7",
"protein_id": "ENSP00000265529.3",
"transcript_support_level": 5,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265529.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000888734.1",
"protein_id": "ENSP00000558793.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888734.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000888735.1",
"protein_id": "ENSP00000558794.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888735.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000888736.1",
"protein_id": "ENSP00000558795.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888736.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "ENST00000888737.1",
"protein_id": "ENSP00000558796.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888737.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1802G>A",
"hgvs_p": "p.Arg601Gln",
"transcript": "ENST00000964531.1",
"protein_id": "ENSP00000634590.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 769,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964531.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "ENST00000964530.1",
"protein_id": "ENSP00000634589.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 731,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964530.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557Gln",
"transcript": "NM_022342.6",
"protein_id": "NP_071737.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 725,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022342.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Arg557Gln",
"transcript": "ENST00000964529.1",
"protein_id": "ENSP00000634588.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 725,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964529.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547Gln",
"transcript": "NM_001377474.1",
"protein_id": "NP_001364403.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 715,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377474.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"transcript": "NM_001377475.1",
"protein_id": "NP_001364404.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 650,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377475.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "XM_017007029.2",
"protein_id": "XP_016862518.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007029.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1865G>A",
"hgvs_p": "p.Arg622Gln",
"transcript": "XM_047448709.1",
"protein_id": "XP_047304665.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 790,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448709.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1769G>A",
"hgvs_p": "p.Arg590Gln",
"transcript": "XM_005265389.5",
"protein_id": "XP_005265446.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 758,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265389.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF9",
"gene_hgnc_id": 16666,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Arg655Gln",
"transcript": "XM_047448710.1",
"protein_id": "XP_047304666.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
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"cdna_length": null,
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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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{
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],
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{
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],
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],
"gene_symbol": "KIF9",
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"dbsnp": "rs780918981",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005927056074142456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.129,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001413976.1",
"gene_symbol": "KIF9",
"hgnc_id": 16666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Arg655Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429315.3",
"gene_symbol": "KIF9-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1275+666C>T",
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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
}