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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: 7-29480313-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29480313&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29480313,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001293070.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "NM_004067.4",
"protein_id": "NP_004058.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 468,
"cds_start": 611,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222792.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004067.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "ENST00000222792.11",
"protein_id": "ENSP00000222792.7",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 468,
"cds_start": 611,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222792.11"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "ENST00000421775.6",
"protein_id": "ENSP00000394284.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 274,
"cds_start": 203,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421775.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "ENST00000409041.8",
"protein_id": "ENSP00000386849.5",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 260,
"cds_start": 203,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409041.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "ENST00000424025.5",
"protein_id": "ENSP00000406337.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 228,
"cds_start": 203,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424025.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "ENST00000439711.7",
"protein_id": "ENSP00000387425.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 197,
"cds_start": 203,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439711.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.689A>C",
"hgvs_p": "p.His230Pro",
"transcript": "ENST00000706161.1",
"protein_id": "ENSP00000516239.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 494,
"cds_start": 689,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706161.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.650A>C",
"hgvs_p": "p.His217Pro",
"transcript": "NM_001293070.2",
"protein_id": "NP_001279999.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 481,
"cds_start": 650,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293070.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.650A>C",
"hgvs_p": "p.His217Pro",
"transcript": "ENST00000409350.6",
"protein_id": "ENSP00000386968.2",
"transcript_support_level": 4,
"aa_start": 217,
"aa_end": null,
"aa_length": 481,
"cds_start": 650,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409350.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "ENST00000886103.1",
"protein_id": "ENSP00000556162.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 468,
"cds_start": 611,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886103.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "ENST00000886105.1",
"protein_id": "ENSP00000556164.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 468,
"cds_start": 611,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886105.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "ENST00000886106.1",
"protein_id": "ENSP00000556165.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 463,
"cds_start": 611,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886106.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.572A>C",
"hgvs_p": "p.His191Pro",
"transcript": "ENST00000886104.1",
"protein_id": "ENSP00000556163.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 455,
"cds_start": 572,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886104.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.566A>C",
"hgvs_p": "p.His189Pro",
"transcript": "NM_001293072.2",
"protein_id": "NP_001280001.1",
"transcript_support_level": null,
"aa_start": 189,
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"aa_length": 453,
"cds_start": 566,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293072.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.His169Pro",
"transcript": "NM_001293071.2",
"protein_id": "NP_001280000.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 433,
"cds_start": 506,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293071.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.497A>C",
"hgvs_p": "p.His166Pro",
"transcript": "ENST00000886107.1",
"protein_id": "ENSP00000556166.1",
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"aa_start": 166,
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"cds_start": 497,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886107.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "ENST00000943494.1",
"protein_id": "ENSP00000613553.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 422,
"cds_start": 611,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943494.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.611A>C",
"hgvs_p": "p.His204Pro",
"transcript": "ENST00000706162.1",
"protein_id": "ENSP00000516240.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 410,
"cds_start": 611,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706162.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "NM_001039936.3",
"protein_id": "NP_001035025.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039936.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "ENST00000412711.7",
"protein_id": "ENSP00000486515.1",
"transcript_support_level": 2,
"aa_start": 68,
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"cds_start": 203,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000412711.7"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.173A>C",
"hgvs_p": "p.His58Pro",
"transcript": "NM_001398427.1",
"protein_id": "NP_001385356.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 173,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398427.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN2",
"gene_hgnc_id": 1944,
"hgvs_c": "c.203A>C",
"hgvs_p": "p.His68Pro",
"transcript": "NM_001293080.2",
"protein_id": "NP_001280009.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 286,
"cds_start": 203,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293080.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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{
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{
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],
"gene_symbol": "CHN2",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.984,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001293070.2",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 2,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000749048.1",
"gene_symbol": "PRR15-DT",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.738-8355T>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}