← Back to variant description
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: 3-93877018-GAC-AAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=93877018&ref=GAC&alt=AAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PROS1",
"hgnc_id": 9456,
"hgvs_c": "c.1912_1914delGTCinsTTT",
"hgvs_p": "p.Val638Phe",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001314077.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 676,
"aa_ref": "V",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000313.4",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1816_1818delGTCinsTTT",
"hgvs_p": "p.Val606Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394236.9",
"protein_coding": true,
"protein_id": "NP_000304.2",
"strand": false,
"transcript": "NM_000313.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 676,
"aa_ref": "V",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394236.9",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1816_1818delGTCinsTTT",
"hgvs_p": "p.Val606Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000313.4",
"protein_coding": true,
"protein_id": "ENSP00000377783.3",
"strand": false,
"transcript": "ENST00000394236.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 661,
"aa_ref": "V",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000407433.6",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1771_1773delGTCinsTTT",
"hgvs_p": "p.Val591Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385794.2",
"strand": false,
"transcript": "ENST00000407433.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 708,
"aa_ref": "V",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001314077.2",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1912_1914delGTCinsTTT",
"hgvs_p": "p.Val638Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001301006.1",
"strand": false,
"transcript": "NM_001314077.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 708,
"aa_ref": "V",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650591.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1912_1914delGTCinsTTT",
"hgvs_p": "p.Val638Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497376.1",
"strand": false,
"transcript": "ENST00000650591.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 693,
"aa_ref": "V",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869621.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1867_1869delGTCinsTTT",
"hgvs_p": "p.Val623Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539680.1",
"strand": false,
"transcript": "ENST00000869621.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 681,
"aa_ref": "V",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3325,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1831,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948247.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1831_1833delGTCinsTTT",
"hgvs_p": "p.Val611Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618306.1",
"strand": false,
"transcript": "ENST00000948247.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 676,
"aa_ref": "V",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348974.5",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1816_1818delGTCinsTTT",
"hgvs_p": "p.Val606Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330021.7",
"strand": false,
"transcript": "ENST00000348974.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 674,
"aa_ref": "V",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948248.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1810_1812delGTCinsTTT",
"hgvs_p": "p.Val604Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618307.1",
"strand": false,
"transcript": "ENST00000948248.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 673,
"aa_ref": "V",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869623.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1807_1809delGTCinsTTT",
"hgvs_p": "p.Val603Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539682.1",
"strand": false,
"transcript": "ENST00000869623.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 662,
"aa_ref": "V",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648853.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1774_1776delGTCinsTTT",
"hgvs_p": "p.Val592Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497262.1",
"strand": false,
"transcript": "ENST00000648853.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 661,
"aa_ref": "V",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869617.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1771_1773delGTCinsTTT",
"hgvs_p": "p.Val591Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539676.1",
"strand": false,
"transcript": "ENST00000869617.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 647,
"aa_ref": "V",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869620.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1729_1731delGTCinsTTT",
"hgvs_p": "p.Val577Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539679.1",
"strand": false,
"transcript": "ENST00000869620.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 632,
"aa_ref": "V",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869619.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1684_1686delGTCinsTTT",
"hgvs_p": "p.Val562Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539678.1",
"strand": false,
"transcript": "ENST00000869619.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 632,
"aa_ref": "V",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 1893,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948246.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1684_1686delGTCinsTTT",
"hgvs_p": "p.Val562Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618305.1",
"strand": false,
"transcript": "ENST00000948246.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 623,
"aa_ref": "V",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869625.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1657_1659delGTCinsTTT",
"hgvs_p": "p.Val553Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539684.1",
"strand": false,
"transcript": "ENST00000869625.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 620,
"aa_ref": "V",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869615.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1648_1650delGTCinsTTT",
"hgvs_p": "p.Val550Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539674.1",
"strand": false,
"transcript": "ENST00000869615.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 615,
"aa_ref": "V",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869614.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1633_1635delGTCinsTTT",
"hgvs_p": "p.Val545Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539673.1",
"strand": false,
"transcript": "ENST00000869614.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 591,
"aa_ref": "V",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869622.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1561_1563delGTCinsTTT",
"hgvs_p": "p.Val521Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539681.1",
"strand": false,
"transcript": "ENST00000869622.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 586,
"aa_ref": "V",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869618.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1546_1548delGTCinsTTT",
"hgvs_p": "p.Val516Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539677.1",
"strand": false,
"transcript": "ENST00000869618.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 501,
"aa_ref": "V",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869624.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1291_1293delGTCinsTTT",
"hgvs_p": "p.Val431Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539683.1",
"strand": false,
"transcript": "ENST00000869624.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 204,
"aa_ref": "V",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 579,
"cds_end": null,
"cds_length": 615,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869616.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.400_402delGTCinsTTT",
"hgvs_p": "p.Val134Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539675.1",
"strand": false,
"transcript": "ENST00000869616.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647936.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "c.1644+2143_1644+2145delGTCinsTTT",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496822.1",
"strand": false,
"transcript": "ENST00000647936.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000648381.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "n.1984_1986delGTCinsTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648381.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000649585.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "n.*447_*449delGTCinsTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498163.1",
"strand": false,
"transcript": "ENST00000649585.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000649585.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "n.*447_*449delGTCinsTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498163.1",
"strand": false,
"transcript": "ENST00000649585.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649103.1",
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"hgvs_c": "n.*1597_*1599delGTCinsTTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497962.1",
"strand": true,
"transcript": "ENST00000649103.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9456,
"gene_symbol": "PROS1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.534,
"pos": 93877018,
"ref": "GAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001314077.2"
}
]
}