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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: 3-93973667-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=93973667&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 93973667,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001314077.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "NM_000313.4",
"protein_id": "NP_000304.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000394236.9",
"protein_id": "ENSP00000377783.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000407433.6",
"protein_id": "ENSP00000385794.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "NM_001314077.2",
"protein_id": "NP_001301006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000650591.1",
"protein_id": "ENSP00000497376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869621.1",
"protein_id": "ENSP00000539680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000948247.1",
"protein_id": "ENSP00000618306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000348974.5",
"protein_id": "ENSP00000330021.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000948248.1",
"protein_id": "ENSP00000618307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869623.1",
"protein_id": "ENSP00000539682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.34+5977A>G",
"hgvs_p": null,
"transcript": "ENST00000648853.1",
"protein_id": "ENSP00000497262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": null,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869617.1",
"protein_id": "ENSP00000539676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869620.1",
"protein_id": "ENSP00000539679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
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"cds_length": 1944,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869620.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869619.1",
"protein_id": "ENSP00000539678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 1899,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000948246.1",
"protein_id": "ENSP00000618305.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948246.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869625.1",
"protein_id": "ENSP00000539684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869625.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"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,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869614.1",
"protein_id": "ENSP00000539673.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869614.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869622.1",
"protein_id": "ENSP00000539681.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 591,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869622.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869618.1",
"protein_id": "ENSP00000539677.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000647936.1",
"protein_id": "ENSP00000496822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"hgvs_p": null,
"transcript": "ENST00000869624.1",
"protein_id": "ENSP00000539683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
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"feature": "ENST00000869624.1"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.76+7A>G",
"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,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "n.336-30A>G",
"hgvs_p": null,
"transcript": "ENST00000648721.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000648721.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "n.55+7A>G",
"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,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"hgvs_c": "c.-422A>G",
"hgvs_p": null,
"transcript": "ENST00000472684.2",
"protein_id": "ENSP00000419616.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472684.2"
}
],
"gene_symbol": "PROS1",
"gene_hgnc_id": 9456,
"dbsnp": "rs201928951",
"frequency_reference_population": 0.00043824143,
"hom_count_reference_population": 4,
"allele_count_reference_population": 707,
"gnomad_exomes_af": 0.000427775,
"gnomad_genomes_af": 0.000538701,
"gnomad_exomes_ac": 625,
"gnomad_genomes_ac": 82,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23800000548362732,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.379,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0411472432493952,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001314077.2",
"gene_symbol": "PROS1",
"hgnc_id": 9456,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.76+7A>G",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant, autosomal recessive,PROS1-related disorder,Protein S deficiency disease,Thrombophilia due to protein S deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1 B:2",
"phenotype_combined": "Thrombophilia due to protein S deficiency, autosomal recessive|Thrombophilia due to protein S deficiency, autosomal dominant|Protein S deficiency disease|not provided|PROS1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}