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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: 11-120802816-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=120802816&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 120802816,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014619.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_014619.5",
"protein_id": "NP_055434.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 956,
"cds_start": 206,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": "ENST00000527524.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "ENST00000527524.8",
"protein_id": "ENSP00000435648.2",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 956,
"cds_start": 206,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": "NM_014619.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "ENST00000438375.2",
"protein_id": "ENSP00000404063.2",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 956,
"cds_start": 206,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "n.604T>G",
"hgvs_p": null,
"transcript": "ENST00000533291.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001282470.3",
"protein_id": "NP_001269399.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 956,
"cds_start": 206,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440402.1",
"protein_id": "NP_001427331.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 956,
"cds_start": 206,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "ENST00000638419.1",
"protein_id": "ENSP00000492086.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 956,
"cds_start": 206,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440403.1",
"protein_id": "NP_001427332.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 902,
"cds_start": 206,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440404.1",
"protein_id": "NP_001427333.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 898,
"cds_start": 206,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440405.1",
"protein_id": "NP_001427334.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 898,
"cds_start": 206,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440406.1",
"protein_id": "NP_001427335.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 898,
"cds_start": 206,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440407.1",
"protein_id": "NP_001427336.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 852,
"cds_start": 206,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001282473.3",
"protein_id": "NP_001269402.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 765,
"cds_start": 206,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440408.1",
"protein_id": "NP_001427337.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 765,
"cds_start": 206,
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"cds_length": 2298,
"cdna_start": 396,
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"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440409.1",
"protein_id": "NP_001427338.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 765,
"cds_start": 206,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440411.1",
"protein_id": "NP_001427340.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
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"cds_start": 206,
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"cdna_start": 504,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440412.1",
"protein_id": "NP_001427341.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 206,
"cds_end": null,
"cds_length": 966,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440413.1",
"protein_id": "NP_001427342.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 206,
"cds_end": null,
"cds_length": 966,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440414.1",
"protein_id": "NP_001427343.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
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"cds_start": 206,
"cds_end": null,
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"cdna_start": 656,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440415.1",
"protein_id": "NP_001427344.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 206,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1068,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440416.1",
"protein_id": "NP_001427345.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 250,
"cds_start": 206,
"cds_end": null,
"cds_length": 753,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440417.1",
"protein_id": "NP_001427346.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 250,
"cds_start": 206,
"cds_end": null,
"cds_length": 753,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440418.1",
"protein_id": "NP_001427347.1",
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"aa_start": 69,
"aa_end": null,
"aa_length": 250,
"cds_start": 206,
"cds_end": null,
"cds_length": 753,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "NM_001440419.1",
"protein_id": "NP_001427348.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 250,
"cds_start": 206,
"cds_end": null,
"cds_length": 753,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys",
"transcript": "XM_017017622.3",
"protein_id": "XP_016873111.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 888,
"cds_start": 206,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "n.406T>G",
"hgvs_p": null,
"transcript": "ENST00000526536.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"hgvs_c": "c.83-12562T>G",
"hgvs_p": null,
"transcript": "NM_001440410.1",
"protein_id": "NP_001427339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIK4",
"gene_hgnc_id": 4582,
"dbsnp": "rs1446993194",
"frequency_reference_population": 0.000002052225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205223,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8062936067581177,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.661,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.848,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014619.5",
"gene_symbol": "GRIK4",
"hgnc_id": 4582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.206T>G",
"hgvs_p": "p.Phe69Cys"
}
],
"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
}