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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: 3-93900833-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=93900833&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 93900833,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001314077.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "NM_000313.4",
"protein_id": "NP_000304.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 676,
"cds_start": 698,
"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": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "ENST00000394236.9",
"protein_id": "ENSP00000377783.3",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 676,
"cds_start": 698,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218Lys",
"transcript": "ENST00000407433.6",
"protein_id": "ENSP00000385794.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 661,
"cds_start": 653,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "NM_001314077.2",
"protein_id": "NP_001301006.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 708,
"cds_start": 794,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000650591.1",
"protein_id": "ENSP00000497376.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 708,
"cds_start": 794,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000869621.1",
"protein_id": "ENSP00000539680.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 693,
"cds_start": 794,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238Lys",
"transcript": "ENST00000948247.1",
"protein_id": "ENSP00000618306.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 681,
"cds_start": 713,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "ENST00000348974.5",
"protein_id": "ENSP00000330021.7",
"transcript_support_level": 5,
"aa_start": 233,
"aa_end": null,
"aa_length": 676,
"cds_start": 698,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "ENST00000948248.1",
"protein_id": "ENSP00000618307.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 674,
"cds_start": 698,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230Lys",
"transcript": "ENST00000869623.1",
"protein_id": "ENSP00000539682.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 673,
"cds_start": 689,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Lys",
"transcript": "ENST00000648853.1",
"protein_id": "ENSP00000497262.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 662,
"cds_start": 656,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "ENST00000869617.1",
"protein_id": "ENSP00000539676.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 661,
"cds_start": 698,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204Lys",
"transcript": "ENST00000869620.1",
"protein_id": "ENSP00000539679.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 647,
"cds_start": 611,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204Lys",
"transcript": "ENST00000869619.1",
"protein_id": "ENSP00000539678.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 632,
"cds_start": 611,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Lys",
"transcript": "ENST00000948246.1",
"protein_id": "ENSP00000618305.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 632,
"cds_start": 566,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Lys",
"transcript": "ENST00000869625.1",
"protein_id": "ENSP00000539684.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 623,
"cds_start": 539,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "ENST00000869615.1",
"protein_id": "ENSP00000539674.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 620,
"cds_start": 698,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869615.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172Lys",
"transcript": "ENST00000869614.1",
"protein_id": "ENSP00000539673.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 615,
"cds_start": 515,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Lys",
"transcript": "ENST00000869622.1",
"protein_id": "ENSP00000539681.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 591,
"cds_start": 443,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Lys",
"transcript": "ENST00000869618.1",
"protein_id": "ENSP00000539677.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 586,
"cds_start": 428,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Lys",
"transcript": "ENST00000647936.1",
"protein_id": "ENSP00000496822.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 556,
"cds_start": 698,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Lys",
"transcript": "ENST00000869624.1",
"protein_id": "ENSP00000539683.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 501,
"cds_start": 173,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.77-21519G>A",
"hgvs_p": null,
"transcript": "ENST00000869616.1",
"protein_id": "ENSP00000539675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "n.866G>A",
"hgvs_p": null,
"transcript": "ENST00000648381.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000648381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "n.*479G>A",
"hgvs_p": null,
"transcript": "ENST00000649103.1",
"protein_id": "ENSP00000497962.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000649103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "n.*479G>A",
"hgvs_p": null,
"transcript": "ENST00000649103.1",
"protein_id": "ENSP00000497962.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000649103.1"
}
],
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"dbsnp": "rs41267007",
"frequency_reference_population": 0.0052816444,
"hom_count_reference_population": 135,
"allele_count_reference_population": 8523,
"gnomad_exomes_af": 0.0055121,
"gnomad_genomes_af": 0.00307143,
"gnomad_exomes_ac": 8055,
"gnomad_genomes_ac": 468,
"gnomad_exomes_homalt": 133,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010655343532562256,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.502,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.162,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 13,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001314077.2",
"gene_symbol": "PROS1",
"hgnc_id": 9456,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys"
}
],
"clinvar_disease": " autosomal dominant, autosomal recessive,Finnish congenital nephrotic syndrome,PROS1-related disorder,Protein S deficiency disease,Retinal dystrophy,Thrombophilia due to protein S deficiency",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2",
"phenotype_combined": "Thrombophilia due to protein S deficiency, autosomal dominant|Thrombophilia due to protein S deficiency, autosomal recessive|Finnish congenital nephrotic syndrome|Protein S deficiency disease|Retinal dystrophy|PROS1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}