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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: 20-58909758-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58909758&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58909758,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080425.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2722C>T",
"hgvs_p": "p.Arg908Cys",
"transcript": "NM_080425.4",
"protein_id": "NP_536350.2",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000371100.9",
"biotype": "protein_coding",
"feature": "NM_080425.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2722C>T",
"hgvs_p": "p.Arg908Cys",
"transcript": "ENST00000371100.9",
"protein_id": "ENSP00000360141.3",
"transcript_support_level": 5,
"aa_start": 908,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_080425.4",
"biotype": "protein_coding",
"feature": "ENST00000371100.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_000516.7",
"protein_id": "NP_000507.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 394,
"cds_start": 793,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371085.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000516.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000371085.8",
"protein_id": "ENSP00000360126.3",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 394,
"cds_start": 793,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000516.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371085.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2725C>T",
"hgvs_p": "p.Arg909Cys",
"transcript": "ENST00000676826.2",
"protein_id": "ENSP00000504675.2",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676826.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2680C>T",
"hgvs_p": "p.Arg894Cys",
"transcript": "ENST00000371102.8",
"protein_id": "ENSP00000360143.4",
"transcript_support_level": 5,
"aa_start": 894,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371102.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266Cys",
"transcript": "ENST00000354359.12",
"protein_id": "ENSP00000346328.7",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 395,
"cds_start": 796,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354359.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "ENST00000371095.7",
"protein_id": "ENSP00000360136.3",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 380,
"cds_start": 751,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371095.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Cys",
"transcript": "ENST00000265620.11",
"protein_id": "ENSP00000265620.7",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 379,
"cds_start": 748,
"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": "ENST00000265620.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Cys",
"transcript": "ENST00000470512.6",
"protein_id": "ENSP00000499552.2",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 336,
"cds_start": 619,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470512.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Cys",
"transcript": "ENST00000480232.6",
"protein_id": "ENSP00000499545.2",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 336,
"cds_start": 619,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480232.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Cys",
"transcript": "ENST00000663479.2",
"protein_id": "ENSP00000499353.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 336,
"cds_start": 619,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000663479.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Cys",
"transcript": "ENST00000477931.5",
"protein_id": "ENSP00000499660.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 335,
"cds_start": 616,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477931.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000462499.6",
"protein_id": "ENSP00000499758.2",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462499.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000467227.6",
"protein_id": "ENSP00000499681.2",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467227.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000478585.6",
"protein_id": "ENSP00000499762.2",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478585.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000481039.6",
"protein_id": "ENSP00000499767.2",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481039.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000485673.6",
"protein_id": "ENSP00000499334.2",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485673.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000488546.6",
"protein_id": "ENSP00000499332.2",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488546.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Cys",
"transcript": "ENST00000492907.6",
"protein_id": "ENSP00000499443.2",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 321,
"cds_start": 574,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492907.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*699C>T",
"hgvs_p": null,
"transcript": "NM_016592.5",
"protein_id": "NP_057676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": "protein_coding",
"feature": "NM_016592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*699C>T",
"hgvs_p": null,
"transcript": "ENST00000371075.7",
"protein_id": "ENSP00000360115.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 8,
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"gene_symbol": "GNAS",
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"transcript": "ENST00000684644.1",
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"biotype": "retained_intron",
"feature": "ENST00000684644.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
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"gene_symbol": "GNAS",
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"biotype": "retained_intron",
"feature": "ENST00000684761.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "GNAS",
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"hgvs_c": "n.*635C>T",
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"transcript": "ENST00000464624.7",
"protein_id": "ENSP00000499607.2",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464624.7"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 6,
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"gene_symbol": "GNAS",
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"hgvs_c": "n.*74C>T",
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"transcript": "ENST00000494081.5",
"protein_id": "ENSP00000499352.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494081.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
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"hgvs_c": "n.*709C>T",
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"transcript": "ENST00000682803.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682803.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.*43C>T",
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"transcript": "ENST00000479025.1",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000479025.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.*46C>T",
"hgvs_p": null,
"transcript": "ENST00000487981.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487981.5"
}
],
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"dbsnp": "rs1555891595",
"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": 0.9712567329406738,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.858,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.734,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_080425.4",
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Mitochondrial,Unknown",
"hgvs_c": "c.2722C>T",
"hgvs_p": "p.Arg908Cys"
}
],
"clinvar_disease": "GNAS-related disorder,Inborn genetic diseases,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Inborn genetic diseases|GNAS-related disorder|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}