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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: 16-70254688-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70254688&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70254688,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001605.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "NM_001605.3",
"protein_id": "NP_001596.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261772.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001605.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000261772.13",
"protein_id": "ENSP00000261772.8",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261772.13"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000565361.3",
"protein_id": "ENSP00000455360.3",
"transcript_support_level": 5,
"aa_start": 778,
"aa_end": null,
"aa_length": 999,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565361.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000896288.1",
"protein_id": "ENSP00000566347.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 999,
"cds_start": 2333,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896288.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000675853.1",
"protein_id": "ENSP00000502367.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 984,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675853.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000951926.1",
"protein_id": "ENSP00000621985.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 984,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951926.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2360A>C",
"hgvs_p": "p.Glu787Ala",
"transcript": "ENST00000675045.1",
"protein_id": "ENSP00000502014.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 977,
"cds_start": 2360,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675045.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000674691.1",
"protein_id": "ENSP00000502247.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674691.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000674963.1",
"protein_id": "ENSP00000501924.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674963.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000675643.1",
"protein_id": "ENSP00000502797.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675643.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000896284.1",
"protein_id": "ENSP00000566343.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896284.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000896291.1",
"protein_id": "ENSP00000566350.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896291.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000934581.1",
"protein_id": "ENSP00000604640.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934581.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000934584.1",
"protein_id": "ENSP00000604643.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934584.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala",
"transcript": "ENST00000951922.1",
"protein_id": "ENSP00000621981.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 968,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951922.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2330A>C",
"hgvs_p": "p.Glu777Ala",
"transcript": "ENST00000951923.1",
"protein_id": "ENSP00000621982.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 967,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951923.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2324A>C",
"hgvs_p": "p.Glu775Ala",
"transcript": "ENST00000951924.1",
"protein_id": "ENSP00000621983.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 965,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951924.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2318A>C",
"hgvs_p": "p.Glu773Ala",
"transcript": "ENST00000896285.1",
"protein_id": "ENSP00000566344.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 963,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896285.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Glu771Ala",
"transcript": "ENST00000674512.1",
"protein_id": "ENSP00000501613.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 961,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674512.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2306A>C",
"hgvs_p": "p.Glu769Ala",
"transcript": "ENST00000675133.1",
"protein_id": "ENSP00000502230.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 959,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675133.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2282A>C",
"hgvs_p": "p.Glu761Ala",
"transcript": "ENST00000934582.1",
"protein_id": "ENSP00000604641.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 951,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934582.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2249A>C",
"hgvs_p": "p.Glu750Ala",
"transcript": "ENST00000675953.1",
"protein_id": "ENSP00000502321.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 940,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"exon_count": 20,
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"gene_symbol": "AARS1",
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"transcript": "ENST00000676211.1",
"protein_id": "ENSP00000502726.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "AARS1",
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"hgvs_c": "n.*22A>C",
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"transcript": "ENST00000676212.1",
"protein_id": "ENSP00000501853.1",
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"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": "ENST00000676212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*685A>C",
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"transcript": "ENST00000676247.1",
"protein_id": "ENSP00000502699.1",
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"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": "ENST00000676247.1"
}
],
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"dbsnp": "rs797044801",
"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": 0.5680558085441589,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7799999713897705,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
"alphamissense_score": 0.0926,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.809,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.78,
"spliceai_max_prediction": "Pathogenic",
"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_001605.3",
"gene_symbol": "AARS1",
"hgnc_id": 20,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2333A>C",
"hgvs_p": "p.Glu778Ala"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}