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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: 20-58903703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58903703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58903703,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354359.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Pro758Leu",
"transcript": "NM_080425.4",
"protein_id": "NP_536350.2",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": "ENST00000371100.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2273C>T",
"hgvs_p": "p.Pro758Leu",
"transcript": "ENST00000371100.9",
"protein_id": "ENSP00000360141.3",
"transcript_support_level": 5,
"aa_start": 758,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2273,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": "NM_080425.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "NM_000516.7",
"protein_id": "NP_000507.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 394,
"cds_start": 344,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "ENST00000371085.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000371085.8",
"protein_id": "ENSP00000360126.3",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 394,
"cds_start": 344,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "NM_000516.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2276C>T",
"hgvs_p": "p.Pro759Leu",
"transcript": "ENST00000676826.2",
"protein_id": "ENSP00000504675.2",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2276,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.2231C>T",
"hgvs_p": "p.Pro744Leu",
"transcript": "ENST00000371102.8",
"protein_id": "ENSP00000360143.4",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2231,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Pro116Leu",
"transcript": "ENST00000354359.12",
"protein_id": "ENSP00000346328.7",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 395,
"cds_start": 347,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Pro101Leu",
"transcript": "ENST00000371095.7",
"protein_id": "ENSP00000360136.3",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 380,
"cds_start": 302,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000265620.11",
"protein_id": "ENSP00000265620.7",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 379,
"cds_start": 299,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "ENST00000470512.6",
"protein_id": "ENSP00000499552.2",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 336,
"cds_start": 170,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "ENST00000480232.6",
"protein_id": "ENSP00000499545.2",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 336,
"cds_start": 170,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "ENST00000663479.2",
"protein_id": "ENSP00000499353.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 336,
"cds_start": 170,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Pro56Leu",
"transcript": "ENST00000477931.5",
"protein_id": "ENSP00000499660.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 335,
"cds_start": 167,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000462499.6",
"protein_id": "ENSP00000499758.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000467227.6",
"protein_id": "ENSP00000499681.2",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000478585.6",
"protein_id": "ENSP00000499762.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000481039.6",
"protein_id": "ENSP00000499767.2",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000485673.6",
"protein_id": "ENSP00000499334.2",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000488546.6",
"protein_id": "ENSP00000499332.2",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000492907.6",
"protein_id": "ENSP00000499443.2",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 321,
"cds_start": 125,
"cds_end": null,
"cds_length": 966,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "n.850C>T",
"hgvs_p": null,
"transcript": "ENST00000475610.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*250C>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": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": "ENST00000371075.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*250C>T",
"hgvs_p": null,
"transcript": "ENST00000371075.7",
"protein_id": "ENSP00000360115.3",
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"transcript": "ENST00000464624.7",
"protein_id": "ENSP00000499607.2",
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3571,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "GNAS",
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"hgvs_c": "n.*260C>T",
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"transcript": "ENST00000682803.2",
"protein_id": "ENSP00000507069.2",
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"cdna_length": 1692,
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"feature": null
},
{
"aa_ref": null,
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"hgvs_c": "c.*300C>T",
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"transcript": "ENST00000461152.6",
"protein_id": "ENSP00000499274.1",
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"aa_start": null,
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"aa_length": 285,
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"cdna_length": 1040,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "GNAS",
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"hgvs_c": "n.-38C>T",
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"transcript": "ENST00000493958.5",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 534,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "GNAS",
"gene_hgnc_id": 4392,
"dbsnp": "rs137854539",
"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": 0.8806836009025574,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.825,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.754,
"phylop100way_prediction": "Uncertain_significance",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000354359.12",
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Mitochondrial,Unknown",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Pro116Leu"
}
],
"clinvar_disease": "Pseudohypoparathyroidism,Pseudopseudohypoparathyroidism,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Pseudohypoparathyroidism|Pseudopseudohypoparathyroidism|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}