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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: 3-93886412-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=93886412&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 93886412,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001314077.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Pro416Gln",
"transcript": "NM_000313.4",
"protein_id": "NP_000304.2",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 676,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394236.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000313.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Pro416Gln",
"transcript": "ENST00000394236.9",
"protein_id": "ENSP00000377783.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 676,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000313.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394236.9"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Pro401Gln",
"transcript": "ENST00000407433.6",
"protein_id": "ENSP00000385794.2",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 661,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407433.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1343C>A",
"hgvs_p": "p.Pro448Gln",
"transcript": "NM_001314077.2",
"protein_id": "NP_001301006.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 708,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314077.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1343C>A",
"hgvs_p": "p.Pro448Gln",
"transcript": "ENST00000650591.1",
"protein_id": "ENSP00000497376.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 708,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650591.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1343C>A",
"hgvs_p": "p.Pro448Gln",
"transcript": "ENST00000869621.1",
"protein_id": "ENSP00000539680.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 693,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869621.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1262C>A",
"hgvs_p": "p.Pro421Gln",
"transcript": "ENST00000948247.1",
"protein_id": "ENSP00000618306.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 681,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948247.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Pro416Gln",
"transcript": "ENST00000348974.5",
"protein_id": "ENSP00000330021.7",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 676,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348974.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1241C>A",
"hgvs_p": "p.Pro414Gln",
"transcript": "ENST00000948248.1",
"protein_id": "ENSP00000618307.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 674,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948248.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1238C>A",
"hgvs_p": "p.Pro413Gln",
"transcript": "ENST00000869623.1",
"protein_id": "ENSP00000539682.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 673,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869623.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1205C>A",
"hgvs_p": "p.Pro402Gln",
"transcript": "ENST00000648853.1",
"protein_id": "ENSP00000497262.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 662,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648853.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Pro416Gln",
"transcript": "ENST00000869617.1",
"protein_id": "ENSP00000539676.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 661,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869617.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1160C>A",
"hgvs_p": "p.Pro387Gln",
"transcript": "ENST00000869620.1",
"protein_id": "ENSP00000539679.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 647,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869620.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1160C>A",
"hgvs_p": "p.Pro387Gln",
"transcript": "ENST00000869619.1",
"protein_id": "ENSP00000539678.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 632,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869619.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1115C>A",
"hgvs_p": "p.Pro372Gln",
"transcript": "ENST00000948246.1",
"protein_id": "ENSP00000618305.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 632,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948246.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1088C>A",
"hgvs_p": "p.Pro363Gln",
"transcript": "ENST00000869625.1",
"protein_id": "ENSP00000539684.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 623,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869625.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1064C>A",
"hgvs_p": "p.Pro355Gln",
"transcript": "ENST00000869614.1",
"protein_id": "ENSP00000539673.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 615,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869614.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.992C>A",
"hgvs_p": "p.Pro331Gln",
"transcript": "ENST00000869622.1",
"protein_id": "ENSP00000539681.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 591,
"cds_start": 992,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869622.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.977C>A",
"hgvs_p": "p.Pro326Gln",
"transcript": "ENST00000869618.1",
"protein_id": "ENSP00000539677.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 586,
"cds_start": 977,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869618.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Pro416Gln",
"transcript": "ENST00000647936.1",
"protein_id": "ENSP00000496822.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 556,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647936.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.722C>A",
"hgvs_p": "p.Pro241Gln",
"transcript": "ENST00000869624.1",
"protein_id": "ENSP00000539683.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 501,
"cds_start": 722,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.1156-1516C>A",
"hgvs_p": null,
"transcript": "ENST00000869615.1",
"protein_id": "ENSP00000539674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": null,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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{
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],
"gene_symbol": "PROS1",
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"dbsnp": "rs565325519",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9327270984649658,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.566,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.456,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001314077.2",
"gene_symbol": "PROS1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1343C>A",
"hgvs_p": "p.Pro448Gln"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}