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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: 17-81511058-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81511058&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81511058,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001614.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "NM_001614.5",
"protein_id": "NP_001605.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000573283.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001614.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000573283.7",
"protein_id": "ENSP00000458435.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001614.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573283.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000575842.5",
"protein_id": "ENSP00000458162.1",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575842.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000615544.5",
"protein_id": "ENSP00000477968.1",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615544.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.1253T>C",
"hgvs_p": null,
"transcript": "ENST00000574671.6",
"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": "ENST00000574671.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.738T>C",
"hgvs_p": null,
"transcript": "ENST00000576209.5",
"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": "retained_intron",
"feature": "ENST00000576209.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Cys290Arg",
"transcript": "ENST00000915975.1",
"protein_id": "ENSP00000586034.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 380,
"cds_start": 868,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915975.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.859T>C",
"hgvs_p": "p.Cys287Arg",
"transcript": "ENST00000915968.1",
"protein_id": "ENSP00000586027.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 377,
"cds_start": 859,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915968.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "NM_001199954.3",
"protein_id": "NP_001186883.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199954.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000570382.2",
"protein_id": "ENSP00000466346.2",
"transcript_support_level": 4,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570382.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000571721.6",
"protein_id": "ENSP00000460660.2",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571721.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000575087.5",
"protein_id": "ENSP00000459124.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575087.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000575659.6",
"protein_id": "ENSP00000459119.2",
"transcript_support_level": 3,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575659.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000575994.6",
"protein_id": "ENSP00000460464.2",
"transcript_support_level": 3,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575994.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000679480.1",
"protein_id": "ENSP00000506201.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679480.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000681052.1",
"protein_id": "ENSP00000505060.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681052.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000863045.1",
"protein_id": "ENSP00000533104.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863045.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000863046.1",
"protein_id": "ENSP00000533105.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863046.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000915961.1",
"protein_id": "ENSP00000586020.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915961.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000915962.1",
"protein_id": "ENSP00000586021.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915962.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000915963.1",
"protein_id": "ENSP00000586022.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915963.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg",
"transcript": "ENST00000915964.1",
"protein_id": "ENSP00000586023.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 375,
"cds_start": 853,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915964.1"
},
{
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"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.853T>C",
"hgvs_p": null,
"transcript": "ENST00000681842.1",
"protein_id": "ENSP00000506126.1",
"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": "ENST00000681842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.925T>C",
"hgvs_p": null,
"transcript": "NR_037688.3",
"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": "NR_037688.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.*297T>C",
"hgvs_p": null,
"transcript": "ENST00000572105.7",
"protein_id": "ENSP00000462823.1",
"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": "ENST00000572105.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.*657T>C",
"hgvs_p": null,
"transcript": "ENST00000681092.1",
"protein_id": "ENSP00000506720.1",
"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": "ENST00000681092.1"
}
],
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"dbsnp": "rs727502882",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.986791729927063,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.926,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.855,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001614.5",
"gene_symbol": "ACTG1",
"hgnc_id": 144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Cys285Arg"
}
],
"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
}