← 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: 4-139137692-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=139137692&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 139137692,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001331036.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "NM_001331036.3",
"protein_id": "NP_001317965.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000686138.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331036.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "ENST00000686138.1",
"protein_id": "ENSP00000510098.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001331036.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "n.513G>A",
"hgvs_p": null,
"transcript": "ENST00000511006.1",
"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": "retained_intron",
"feature": "ENST00000511006.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "ENST00000379550.5",
"protein_id": "ENSP00000368868.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379550.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "NM_001371324.1",
"protein_id": "NP_001358253.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 581,
"cds_start": 10,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371324.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "NM_201999.3",
"protein_id": "NP_973728.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 581,
"cds_start": 10,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201999.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "ENST00000394235.6",
"protein_id": "ENSP00000377782.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 581,
"cds_start": 10,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394235.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "NM_001371336.1",
"protein_id": "NP_001358265.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 564,
"cds_start": 10,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371336.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "ENST00000864105.1",
"protein_id": "ENSP00000534164.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 564,
"cds_start": 10,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864105.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "ENST00000935561.1",
"protein_id": "ENSP00000605620.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 564,
"cds_start": 10,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935561.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "ENST00000864104.1",
"protein_id": "ENSP00000534163.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 552,
"cds_start": 10,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864104.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449732.1",
"protein_id": "XP_047305688.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449732.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449733.1",
"protein_id": "XP_047305689.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449733.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449734.1",
"protein_id": "XP_047305690.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449734.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449736.1",
"protein_id": "XP_047305692.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449736.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449737.1",
"protein_id": "XP_047305693.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 593,
"cds_start": 10,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449737.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449738.1",
"protein_id": "XP_047305694.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 581,
"cds_start": 10,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449738.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449739.1",
"protein_id": "XP_047305695.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 581,
"cds_start": 10,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449739.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449740.1",
"protein_id": "XP_047305696.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 581,
"cds_start": 10,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449740.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_047449741.1",
"protein_id": "XP_047305697.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 564,
"cds_start": 10,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449741.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr",
"transcript": "XM_005262805.3",
"protein_id": "XP_005262862.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 552,
"cds_start": 10,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262805.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.-462G>A",
"hgvs_p": null,
"transcript": "NM_001371337.1",
"protein_id": "NP_001358266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.-462G>A",
"hgvs_p": null,
"transcript": "NM_001371338.1",
"protein_id": "NP_001358267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "c.-406G>A",
"hgvs_p": null,
"transcript": "NM_001371339.1",
"protein_id": "NP_001358268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": null,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"hgvs_c": "n.10G>A",
"hgvs_p": null,
"transcript": "ENST00000511184.5",
"protein_id": "ENSP00000421278.1",
"transcript_support_level": 5,
"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": "ENST00000511184.5"
}
],
"gene_symbol": "ELF2",
"gene_hgnc_id": 3317,
"dbsnp": "rs747574524",
"frequency_reference_population": 0.000022576976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.000022577,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2885197401046753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.578,
"phylop100way_prediction": "Uncertain_significance",
"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": "PP2,PP5_Moderate,BP4,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 5,
"pathogenic_score": 3,
"criteria": [
"PP2",
"PP5_Moderate",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001331036.3",
"gene_symbol": "ELF2",
"hgnc_id": 3317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.10G>A",
"hgvs_p": "p.Ala4Thr"
}
],
"clinvar_disease": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}