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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: 9-111369157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=111369157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 111369157,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364931.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "NM_001364929.1",
"protein_id": "NP_001351858.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684092.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364929.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000684092.1",
"protein_id": "ENSP00000507419.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364929.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684092.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.5525G>A",
"hgvs_p": "p.Ser1842Asn",
"transcript": "ENST00000259335.8",
"protein_id": "ENSP00000259335.4",
"transcript_support_level": 1,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2017,
"cds_start": 5525,
"cds_end": null,
"cds_length": 6054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259335.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.5009G>A",
"hgvs_p": "p.Ser1670Asn",
"transcript": "NM_001364931.1",
"protein_id": "NP_001351860.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 1845,
"cds_start": 5009,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364931.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "NM_001363756.2",
"protein_id": "NP_001350685.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363756.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "NM_001364930.1",
"protein_id": "NP_001351859.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364930.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000338205.9",
"protein_id": "ENSP00000339889.5",
"transcript_support_level": 5,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338205.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000855863.1",
"protein_id": "ENSP00000525922.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855863.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000855864.1",
"protein_id": "ENSP00000525923.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855864.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000932782.1",
"protein_id": "ENSP00000602841.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932782.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000967702.1",
"protein_id": "ENSP00000637761.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967702.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "ENST00000967703.1",
"protein_id": "ENSP00000637762.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967703.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4988G>A",
"hgvs_p": "p.Ser1663Asn",
"transcript": "ENST00000967701.1",
"protein_id": "ENSP00000637760.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1838,
"cds_start": 4988,
"cds_end": null,
"cds_length": 5517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967701.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4901G>A",
"hgvs_p": "p.Ser1634Asn",
"transcript": "ENST00000932780.1",
"protein_id": "ENSP00000602839.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1809,
"cds_start": 4901,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932780.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4841G>A",
"hgvs_p": "p.Ser1614Asn",
"transcript": "ENST00000932781.1",
"protein_id": "ENSP00000602840.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1789,
"cds_start": 4841,
"cds_end": null,
"cds_length": 5370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932781.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "XM_005251853.4",
"protein_id": "XP_005251910.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251853.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "XM_047423105.1",
"protein_id": "XP_047279061.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1839,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423105.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.5009G>A",
"hgvs_p": "p.Ser1670Asn",
"transcript": "XM_011518422.4",
"protein_id": "XP_011516724.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 1802,
"cds_start": 5009,
"cds_end": null,
"cds_length": 5409,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518422.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Ser1664Asn",
"transcript": "XM_047423106.1",
"protein_id": "XP_047279062.1",
"transcript_support_level": null,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423106.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4835G>A",
"hgvs_p": "p.Ser1612Asn",
"transcript": "XM_047423107.1",
"protein_id": "XP_047279063.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1787,
"cds_start": 4835,
"cds_end": null,
"cds_length": 5364,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423107.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.4835G>A",
"hgvs_p": "p.Ser1612Asn",
"transcript": "XM_047423108.1",
"protein_id": "XP_047279064.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1744,
"cds_start": 4835,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423108.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.3740G>A",
"hgvs_p": "p.Ser1247Asn",
"transcript": "XM_047423109.1",
"protein_id": "XP_047279065.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1422,
"cds_start": 3740,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423109.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "c.405+1278G>A",
"hgvs_p": null,
"transcript": "ENST00000374383.1",
"protein_id": "ENSP00000363504.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"hgvs_c": "n.187G>A",
"hgvs_p": null,
"transcript": "ENST00000465499.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465499.1"
}
],
"gene_symbol": "ECPAS",
"gene_hgnc_id": 29020,
"dbsnp": "rs2098124299",
"frequency_reference_population": 0.0000065701297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020485758781433105,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.361,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001364931.1",
"gene_symbol": "ECPAS",
"hgnc_id": 29020,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5009G>A",
"hgvs_p": "p.Ser1670Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}