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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: 8-143817402-AG-GGGGCTGGGCCAGGGTCAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143817402&ref=AG&alt=GGGGCTGGGCCAGGGTCAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143817402,
"ref": "AG",
"alt": "GGGGCTGGGCCAGGGTCAA",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000526683.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr359fs",
"transcript": "NM_078480.3",
"protein_id": "NP_510965.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 559,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000526683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr359fs",
"transcript": "ENST00000526683.6",
"protein_id": "ENSP00000434359.1",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 559,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_078480.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1021_1022delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr342fs",
"transcript": "ENST00000349157.10",
"protein_id": "ENSP00000322036.7",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 542,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.943_944delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr316fs",
"transcript": "ENST00000453551.6",
"protein_id": "ENSP00000402953.2",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 516,
"cds_start": 943,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.892_893delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr299fs",
"transcript": "ENST00000313352.11",
"protein_id": "ENSP00000322016.7",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 499,
"cds_start": 892,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1183_1184delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr396fs",
"transcript": "NM_001362895.2",
"protein_id": "NP_001349824.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 596,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1183_1184delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr396fs",
"transcript": "NM_001362896.2",
"protein_id": "NP_001349825.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 596,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1183_1184delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr396fs",
"transcript": "ENST00000533162.2",
"protein_id": "ENSP00000433403.2",
"transcript_support_level": 3,
"aa_start": 395,
"aa_end": null,
"aa_length": 596,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1183_1184delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr396fs",
"transcript": "ENST00000703847.1",
"protein_id": "ENSP00000515499.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 596,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1147_1148delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr384fs",
"transcript": "ENST00000533362.2",
"protein_id": "ENSP00000515502.1",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 584,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1147_1148delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr384fs",
"transcript": "ENST00000703850.1",
"protein_id": "ENSP00000515503.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 584,
"cds_start": 1147,
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"cdna_start": 1299,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1132_1133delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr379fs",
"transcript": "NM_001362897.2",
"protein_id": "NP_001349826.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 579,
"cds_start": 1132,
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"cds_length": 1740,
"cdna_start": 1208,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr359fs",
"transcript": "ENST00000703866.1",
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},
{
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"missense_variant"
],
"exon_rank": 10,
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"intron_rank": null,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1069_1070delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr358fs",
"transcript": "NM_001271098.2",
"protein_id": "NP_001258027.1",
"transcript_support_level": null,
"aa_start": 357,
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"cds_start": 1069,
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"cdna_start": 1082,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PUF60",
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"hgvs_c": "c.1069_1070delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr358fs",
"transcript": "ENST00000527744.6",
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},
{
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"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1021_1022delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr342fs",
"transcript": "NM_014281.5",
"protein_id": "NP_055096.2",
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"aa_start": 341,
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"cds_start": 1021,
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"cdna_start": 1034,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1018_1019delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr341fs",
"transcript": "NM_001271096.2",
"protein_id": "NP_001258025.1",
"transcript_support_level": null,
"aa_start": 340,
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"cds_start": 1018,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1018_1019delCTinsTTGACCCTGGCCCAGCCCC",
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"transcript": "ENST00000526459.6",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"missense_variant"
],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.985_986delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr330fs",
"transcript": "NM_001271099.2",
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},
{
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"consequences": [
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"missense_variant"
],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.985_986delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr330fs",
"transcript": "ENST00000456095.6",
"protein_id": "ENSP00000395417.2",
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"aa_start": 329,
"aa_end": null,
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"cds_start": 985,
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"cdna_start": 986,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "LTLAQP?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.943_944delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr316fs",
"transcript": "NM_001136033.3",
"protein_id": "NP_001129505.1",
"transcript_support_level": null,
"aa_start": 315,
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"cds_start": 943,
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"cdna_start": 1107,
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},
{
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"dbsnp": "rs1554642573",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.939,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000526683.6",
"gene_symbol": "PUF60",
"hgnc_id": 17042,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC",
"hgvs_p": "p.Thr359fs"
}
],
"clinvar_disease": "8q24.3 microdeletion syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "8q24.3 microdeletion syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}