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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: 8-143818494-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143818494&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143818494,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000526683.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"transcript": "NM_078480.3",
"protein_id": "NP_510965.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 559,
"cds_start": 389,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000526683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"transcript": "ENST00000526683.6",
"protein_id": "ENSP00000434359.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 559,
"cds_start": 389,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_078480.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000349157.10",
"protein_id": "ENSP00000322036.7",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 542,
"cds_start": 338,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87His",
"transcript": "ENST00000453551.6",
"protein_id": "ENSP00000402953.2",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 516,
"cds_start": 260,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000313352.11",
"protein_id": "ENSP00000322016.7",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 499,
"cds_start": 209,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "NM_001362895.2",
"protein_id": "NP_001349824.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 596,
"cds_start": 500,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "NM_001362896.2",
"protein_id": "NP_001349825.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 596,
"cds_start": 500,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "ENST00000533162.2",
"protein_id": "ENSP00000433403.2",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 596,
"cds_start": 500,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167His",
"transcript": "ENST00000703847.1",
"protein_id": "ENSP00000515499.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 596,
"cds_start": 500,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000533362.2",
"protein_id": "ENSP00000515502.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 584,
"cds_start": 464,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000703850.1",
"protein_id": "ENSP00000515503.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 584,
"cds_start": 464,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150His",
"transcript": "NM_001362897.2",
"protein_id": "NP_001349826.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 579,
"cds_start": 449,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"transcript": "ENST00000703866.1",
"protein_id": "ENSP00000515511.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 559,
"cds_start": 389,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "NM_001271098.2",
"protein_id": "NP_001258027.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 558,
"cds_start": 386,
"cds_end": null,
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"cdna_start": 398,
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"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000527744.6",
"protein_id": "ENSP00000436131.2",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 558,
"cds_start": 386,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "NM_014281.5",
"protein_id": "NP_055096.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 542,
"cds_start": 338,
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"cdna_start": 350,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "NM_001271096.2",
"protein_id": "NP_001258025.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 541,
"cds_start": 335,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "ENST00000526459.6",
"protein_id": "ENSP00000432610.2",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 541,
"cds_start": 335,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "NM_001271099.2",
"protein_id": "NP_001258028.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 530,
"cds_start": 302,
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"cdna_start": 314,
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"mane_select": null,
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},
{
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"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000456095.6",
"protein_id": "ENSP00000395417.2",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 530,
"cds_start": 302,
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"cdna_start": 302,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87His",
"transcript": "NM_001136033.3",
"protein_id": "NP_001129505.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 516,
"cds_start": 260,
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"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87His",
"transcript": "ENST00000531951.6",
"protein_id": "ENSP00000515500.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 516,
"cds_start": 260,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Arg87His",
"transcript": "ENST00000703846.1",
"protein_id": "ENSP00000515498.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 516,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 9,
"intron_rank": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 7,
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"gene_symbol": "PUF60",
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"hgvs_c": "n.303G>A",
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"transcript": "ENST00000703853.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 12,
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"gene_symbol": "PUF60",
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"hgvs_c": "n.*234G>A",
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"transcript": "ENST00000532127.6",
"protein_id": "ENSP00000515484.1",
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{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 6,
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"exon_count": 9,
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"gene_symbol": "PUF60",
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"transcript": "ENST00000703852.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.-20G>A",
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"transcript": "ENST00000532884.1",
"protein_id": "ENSP00000432091.1",
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 819,
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"feature": null
}
],
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"dbsnp": "rs1554643584",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8658179044723511,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.714,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.791,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000526683.6",
"gene_symbol": "PUF60",
"hgnc_id": 17042,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His"
}
],
"clinvar_disease": "8q24.3 microdeletion syndrome,CHARGE syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "8q24.3 microdeletion syndrome|CHARGE syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}