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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: 19-55080773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55080773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55080773,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_133180.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "NM_133180.3",
"protein_id": "NP_573441.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 723,
"cds_start": 431,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000201647.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133180.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000201647.11",
"protein_id": "ENSP00000201647.5",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 723,
"cds_start": 431,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133180.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000201647.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"transcript": "ENST00000245618.5",
"protein_id": "ENSP00000245618.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 596,
"cds_start": 50,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245618.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "n.317C>T",
"hgvs_p": null,
"transcript": "ENST00000587786.5",
"protein_id": "ENSP00000465830.1",
"transcript_support_level": 1,
"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": "ENST00000587786.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "n.535C>T",
"hgvs_p": null,
"transcript": "ENST00000592824.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000592824.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000959601.1",
"protein_id": "ENSP00000629660.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 786,
"cds_start": 431,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959601.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000918680.1",
"protein_id": "ENSP00000588739.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 764,
"cds_start": 431,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918680.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000908398.1",
"protein_id": "ENSP00000578457.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 755,
"cds_start": 431,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908398.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000908402.1",
"protein_id": "ENSP00000578461.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 755,
"cds_start": 431,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908402.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000908401.1",
"protein_id": "ENSP00000578460.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 723,
"cds_start": 431,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908401.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000918679.1",
"protein_id": "ENSP00000588738.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 723,
"cds_start": 431,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918679.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000908399.1",
"protein_id": "ENSP00000578458.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 698,
"cds_start": 431,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908399.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000908400.1",
"protein_id": "ENSP00000578459.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 690,
"cds_start": 431,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908400.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000540810.5",
"protein_id": "ENSP00000437541.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 659,
"cds_start": 239,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540810.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"transcript": "NM_017729.4",
"protein_id": "NP_060199.3",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 596,
"cds_start": 50,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017729.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Ala126Val",
"transcript": "ENST00000586329.5",
"protein_id": "ENSP00000466828.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 548,
"cds_start": 377,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586329.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "XM_005259020.3",
"protein_id": "XP_005259077.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 755,
"cds_start": 431,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259020.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "XM_047439021.1",
"protein_id": "XP_047294977.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 755,
"cds_start": 431,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439021.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "XM_047439022.1",
"protein_id": "XP_047294978.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 723,
"cds_start": 431,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439022.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"transcript": "XM_011527050.2",
"protein_id": "XP_011525352.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 628,
"cds_start": 50,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527050.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "XM_011527051.4",
"protein_id": "XP_011525353.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 474,
"cds_start": 431,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527051.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "XM_011527052.4",
"protein_id": "XP_011525354.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 466,
"cds_start": 431,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527052.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "c.54+226C>T",
"hgvs_p": null,
"transcript": "ENST00000588359.5",
"protein_id": "ENSP00000466245.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588359.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"hgvs_c": "n.337C>T",
"hgvs_p": null,
"transcript": "ENST00000592044.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000592044.1"
}
],
"gene_symbol": "EPS8L1",
"gene_hgnc_id": 21295,
"dbsnp": "rs201364329",
"frequency_reference_population": 0.000016907145,
"hom_count_reference_population": 2,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000138427,
"gnomad_genomes_af": 0.0000460078,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4585275948047638,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.46399998664855957,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.1306,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.035,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0735473773366667,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_133180.3",
"gene_symbol": "EPS8L1",
"hgnc_id": 21295,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val"
}
],
"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
}