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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: 17-68433475-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68433475&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68433475,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017983.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "NM_017983.7",
"protein_id": "NP_060453.3",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 446,
"cds_start": 793,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": "ENST00000262139.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017983.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "ENST00000262139.10",
"protein_id": "ENSP00000262139.4",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 446,
"cds_start": 793,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": "NM_017983.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262139.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "ENST00000891619.1",
"protein_id": "ENSP00000561678.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 447,
"cds_start": 793,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891619.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "ENST00000959788.1",
"protein_id": "ENSP00000629847.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 410,
"cds_start": 793,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959788.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "ENST00000891622.1",
"protein_id": "ENSP00000561681.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 392,
"cds_start": 793,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891622.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "ENST00000891620.1",
"protein_id": "ENSP00000561679.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 391,
"cds_start": 793,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891620.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "NM_001320772.2",
"protein_id": "NP_001307701.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 364,
"cds_start": 547,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320772.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Thr183Ala",
"transcript": "ENST00000546360.5",
"protein_id": "ENSP00000437345.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 364,
"cds_start": 547,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546360.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala",
"transcript": "ENST00000891621.1",
"protein_id": "ENSP00000561680.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 355,
"cds_start": 793,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891621.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.97A>G",
"hgvs_p": "p.Thr33Ala",
"transcript": "ENST00000591744.1",
"protein_id": "ENSP00000466270.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 205,
"cds_start": 97,
"cds_end": null,
"cds_length": 618,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591744.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "WIPI1",
"gene_hgnc_id": 25471,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Thr137Ala",
"transcript": "XM_017024808.2",
"protein_id": "XP_016880297.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 318,
"cds_start": 409,
"cds_end": null,
"cds_length": 957,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024808.2"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-7226T>C",
"hgvs_p": null,
"transcript": "NM_001352905.2",
"protein_id": "NP_001339834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352905.2"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1304-7226T>C",
"hgvs_p": null,
"transcript": "NM_001352910.2",
"protein_id": "NP_001339839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352910.2"
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1256-7226T>C",
"hgvs_p": null,
"transcript": "NM_001352909.2",
"protein_id": "NP_001339838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
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"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352909.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.-7+19680T>C",
"hgvs_p": null,
"transcript": "NM_001278433.2",
"protein_id": "NP_001265362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
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"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278433.2"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.*44-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435634.1",
"protein_id": "XP_047291590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435634.1"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1385-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435637.1",
"protein_id": "XP_047291593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435637.1"
},
{
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1304-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435644.1",
"protein_id": "XP_047291600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"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": "XM_047435644.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1304-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435645.1",
"protein_id": "XP_047291601.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435645.1"
},
{
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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": 11,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1304-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435646.1",
"protein_id": "XP_047291602.1",
"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": "XM_047435646.1"
},
{
"aa_ref": null,
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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": 10,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1183-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435642.1",
"protein_id": "XP_047291598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435642.1"
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "ARSG",
"gene_hgnc_id": 24102,
"hgvs_c": "c.1183-7226T>C",
"hgvs_p": null,
"transcript": "XM_047435643.1",
"protein_id": "XP_047291599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435643.1"
},
{
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{
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],
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],
"gene_symbol": "WIPI1",
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"dbsnp": "rs953866383",
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"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05037519335746765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.773,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017983.7",
"gene_symbol": "WIPI1",
"hgnc_id": 25471,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Thr265Ala"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001352905.2",
"gene_symbol": "ARSG",
"hgnc_id": 24102,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*44-7226T>C",
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},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_001278433.2",
"gene_symbol": "PRKAR1A",
"hgnc_id": 9388,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-7+19680T>C",
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},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000590353.1",
"gene_symbol": "ENSG00000267009",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.173+19680T>C",
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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
}