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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: 9-34648085-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34648085&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34648085,
"ref": "CT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_000155.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "NM_000155.4",
"protein_id": "NP_000146.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378842.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000155.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000378842.8",
"protein_id": "ENSP00000368119.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000155.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378842.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258728",
"gene_hgnc_id": null,
"hgvs_c": "c.253-29delT",
"hgvs_p": null,
"transcript": "ENST00000556278.1",
"protein_id": "ENSP00000451792.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.547-29delT",
"hgvs_p": null,
"transcript": "ENST00000902340.1",
"protein_id": "ENSP00000572399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.547-29delT",
"hgvs_p": null,
"transcript": "ENST00000902346.1",
"protein_id": "ENSP00000572405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902330.1",
"protein_id": "ENSP00000572389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902331.1",
"protein_id": "ENSP00000572390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902333.1",
"protein_id": "ENSP00000572392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000964991.1",
"protein_id": "ENSP00000635050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964991.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000964992.1",
"protein_id": "ENSP00000635051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000936127.1",
"protein_id": "ENSP00000606186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936127.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902332.1",
"protein_id": "ENSP00000572391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
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"cds_length": 1128,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902332.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902336.1",
"protein_id": "ENSP00000572395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902336.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.496-29delT",
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"transcript": "ENST00000902344.1",
"protein_id": "ENSP00000572403.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.507+125delT",
"hgvs_p": null,
"transcript": "ENST00000902337.1",
"protein_id": "ENSP00000572396.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902337.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.507+125delT",
"hgvs_p": null,
"transcript": "ENST00000902339.1",
"protein_id": "ENSP00000572398.1",
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"biotype": "protein_coding",
"feature": "ENST00000902339.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902334.1",
"protein_id": "ENSP00000572393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000902334.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.547-29delT",
"hgvs_p": null,
"transcript": "ENST00000964993.1",
"protein_id": "ENSP00000635052.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 351,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000964993.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
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"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902347.1",
"protein_id": "ENSP00000572406.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
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"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902335.1",
"protein_id": "ENSP00000572394.1",
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"feature": "ENST00000902335.1"
},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.508-29delT",
"hgvs_p": null,
"transcript": "ENST00000902341.1",
"protein_id": "ENSP00000572400.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 334,
"cds_start": null,
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"cds_length": 1005,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902341.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
"gene_hgnc_id": 4135,
"hgvs_c": "c.507+125delT",
"hgvs_p": null,
"transcript": "ENST00000902348.1",
"protein_id": "ENSP00000572407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902348.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALT",
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.4099999964237213,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.622,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000155.4",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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{
"score": 3,
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"PM2",
"PP5"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000556278.1",
"gene_symbol": "ENSG00000258728",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.253-29delT",
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{
"score": 3,
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"PM2",
"PP5"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000721802.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127-3472delA",
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}
],
"clinvar_disease": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase,GALT-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:1",
"phenotype_combined": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|GALT-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}