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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: 14-92071035-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92071035&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92071035,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001164778.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln",
"transcript": "NM_004993.6",
"protein_id": "NP_004984.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 361,
"cds_start": 891,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644486.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004993.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln",
"transcript": "ENST00000644486.2",
"protein_id": "ENSP00000496695.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 361,
"cds_start": 891,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004993.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644486.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln",
"transcript": "ENST00000532032.5",
"protein_id": "ENSP00000437157.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 364,
"cds_start": 891,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532032.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.846A>G",
"hgvs_p": "p.Gln282Gln",
"transcript": "ENST00000503767.5",
"protein_id": "ENSP00000426697.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 346,
"cds_start": 846,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503767.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.888A>G",
"hgvs_p": "p.Gln296Gln",
"transcript": "ENST00000554592.5",
"protein_id": "ENSP00000451385.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 328,
"cds_start": 888,
"cds_end": null,
"cds_length": 988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554592.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Gln246Gln",
"transcript": "ENST00000393287.9",
"protein_id": "ENSP00000376965.6",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 310,
"cds_start": 738,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393287.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.726A>G",
"hgvs_p": "p.Gln242Gln",
"transcript": "ENST00000340660.10",
"protein_id": "ENSP00000339110.6",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 306,
"cds_start": 726,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340660.10"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.681A>G",
"hgvs_p": "p.Gln227Gln",
"transcript": "ENST00000429774.6",
"protein_id": "ENSP00000389376.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 291,
"cds_start": 681,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429774.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Gln246Gln",
"transcript": "ENST00000553491.5",
"protein_id": "ENSP00000451996.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 277,
"cds_start": 738,
"cds_end": null,
"cds_length": 835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553491.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.681A>G",
"hgvs_p": "p.Gln227Gln",
"transcript": "ENST00000555381.5",
"protein_id": "ENSP00000451001.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 259,
"cds_start": 681,
"cds_end": null,
"cds_length": 781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555381.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.573A>G",
"hgvs_p": "p.Gln191Gln",
"transcript": "ENST00000556220.5",
"protein_id": "ENSP00000450641.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 222,
"cds_start": 573,
"cds_end": null,
"cds_length": 670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556220.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.354A>G",
"hgvs_p": "p.Gln118Gln",
"transcript": "ENST00000502250.5",
"protein_id": "ENSP00000425322.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 182,
"cds_start": 354,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502250.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.354A>G",
"hgvs_p": "p.Gln118Gln",
"transcript": "ENST00000557311.6",
"protein_id": "ENSP00000450642.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 149,
"cds_start": 354,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557311.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.354A>G",
"hgvs_p": "p.Gln118Gln",
"transcript": "ENST00000554672.6",
"protein_id": "ENSP00000451417.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 125,
"cds_start": 354,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554672.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*565A>G",
"hgvs_p": null,
"transcript": "ENST00000359366.10",
"protein_id": "ENSP00000352324.5",
"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": "ENST00000359366.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.629A>G",
"hgvs_p": null,
"transcript": "ENST00000553287.5",
"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": "ENST00000553287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.925A>G",
"hgvs_p": null,
"transcript": "ENST00000553309.5",
"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": "ENST00000553309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*706A>G",
"hgvs_p": null,
"transcript": "ENST00000553488.5",
"protein_id": "ENSP00000452461.1",
"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": "ENST00000553488.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.814A>G",
"hgvs_p": null,
"transcript": "ENST00000553498.5",
"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": "ENST00000553498.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*350A>G",
"hgvs_p": null,
"transcript": "ENST00000553570.5",
"protein_id": "ENSP00000451405.1",
"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": "ENST00000553570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.772A>G",
"hgvs_p": null,
"transcript": "ENST00000553686.5",
"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": "ENST00000553686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.495A>G",
"hgvs_p": null,
"transcript": "ENST00000554040.5",
"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": "ENST00000554040.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303901",
"gene_hgnc_id": null,
"hgvs_c": "n.906+30554T>C",
"hgvs_p": null,
"transcript": "ENST00000797941.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000797941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303901",
"gene_hgnc_id": null,
"hgvs_c": "n.113-8562T>C",
"hgvs_p": null,
"transcript": "ENST00000797942.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000797942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303901",
"gene_hgnc_id": null,
"hgvs_c": "n.294-20845T>C",
"hgvs_p": null,
"transcript": "ENST00000797943.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000797943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303901",
"gene_hgnc_id": null,
"hgvs_c": "n.131-1344T>C",
"hgvs_p": null,
"transcript": "ENST00000797944.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000797944.1"
}
],
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"dbsnp": "rs12896583",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.188328,
"gnomad_genomes_af": 0.0344225,
"gnomad_exomes_ac": 94896,
"gnomad_genomes_ac": 689,
"gnomad_exomes_homalt": 273,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.273,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_001164778.2",
"gene_symbol": "ATXN3",
"hgnc_id": 7106,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.406A>G",
"hgvs_p": "p.Thr136Ala"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000797940.1",
"gene_symbol": "ENSG00000303901",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.752+30732T>C",
"hgvs_p": null
}
],
"clinvar_disease": "ATXN3-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases|ATXN3-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}