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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: 13-110642364-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110642364&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110642364,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024537.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1574C>G",
"hgvs_p": "p.Ala525Gly",
"transcript": "NM_024537.4",
"protein_id": "NP_078813.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 564,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257347.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024537.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1574C>G",
"hgvs_p": "p.Ala525Gly",
"transcript": "ENST00000257347.9",
"protein_id": "ENSP00000257347.4",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 564,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024537.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257347.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1718C>G",
"hgvs_p": "p.Ala573Gly",
"transcript": "ENST00000939453.1",
"protein_id": "ENSP00000609512.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 612,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939453.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Ala523Gly",
"transcript": "ENST00000890914.1",
"protein_id": "ENSP00000560973.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 562,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890914.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Ala523Gly",
"transcript": "ENST00000939450.1",
"protein_id": "ENSP00000609509.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 562,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939450.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1490C>G",
"hgvs_p": "p.Ala497Gly",
"transcript": "ENST00000939451.1",
"protein_id": "ENSP00000609510.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 536,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939451.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1475C>G",
"hgvs_p": "p.Ala492Gly",
"transcript": "ENST00000890913.1",
"protein_id": "ENSP00000560972.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 531,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890913.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1439C>G",
"hgvs_p": "p.Ala480Gly",
"transcript": "ENST00000939452.1",
"protein_id": "ENSP00000609511.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 519,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939452.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Ala348Gly",
"transcript": "ENST00000960810.1",
"protein_id": "ENSP00000630869.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 387,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960810.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.980C>G",
"hgvs_p": "p.Ala327Gly",
"transcript": "ENST00000890915.1",
"protein_id": "ENSP00000560974.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 366,
"cds_start": 980,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890915.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Ala263Gly",
"transcript": "NM_001352252.2",
"protein_id": "NP_001339181.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 302,
"cds_start": 788,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352252.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Ala412Gly",
"transcript": "XM_006719953.4",
"protein_id": "XP_006720016.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 451,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719953.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.1229C>G",
"hgvs_p": "p.Ala410Gly",
"transcript": "XM_047430606.1",
"protein_id": "XP_047286562.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 449,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430606.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "c.788C>G",
"hgvs_p": "p.Ala263Gly",
"transcript": "XM_047430609.1",
"protein_id": "XP_047286565.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 302,
"cds_start": 788,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430609.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.2506C>G",
"hgvs_p": null,
"transcript": "ENST00000375781.9",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000375781.9"
},
{
"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": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.1008C>G",
"hgvs_p": null,
"transcript": "ENST00000481787.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000481787.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.*243C>G",
"hgvs_p": null,
"transcript": "ENST00000487253.6",
"protein_id": "ENSP00000438267.1",
"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": "ENST00000487253.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.2074C>G",
"hgvs_p": null,
"transcript": "ENST00000535516.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000535516.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.2986C>G",
"hgvs_p": null,
"transcript": "ENST00000537802.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000537802.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.1239C>G",
"hgvs_p": null,
"transcript": "ENST00000540006.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000540006.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.3270C>G",
"hgvs_p": null,
"transcript": "ENST00000541239.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000541239.5"
},
{
"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": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.573C>G",
"hgvs_p": null,
"transcript": "ENST00000542774.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000542774.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 17,
"intron_rank": null,
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"hgvs_c": "n.1658C>G",
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"transcript": "NR_147941.1",
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_147941.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 17,
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"gene_symbol": "CARS2",
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"hgvs_c": "n.1993C>G",
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"transcript": "NR_147942.2",
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"biotype": "pseudogene",
"feature": "NR_147942.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 8,
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"gene_symbol": "CARS2",
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"hgvs_c": "n.*243C>G",
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"transcript": "ENST00000487253.6",
"protein_id": "ENSP00000438267.1",
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"cds_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487253.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CARS2",
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"hgvs_c": "n.*23C>G",
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"transcript": "ENST00000471986.2",
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"aa_length": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000471986.2"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CARS2",
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"hgvs_c": "n.*83C>G",
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"transcript": "ENST00000480437.5",
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"biotype": "pseudogene",
"feature": "ENST00000480437.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"hgvs_c": "n.*147C>G",
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"transcript": "ENST00000535615.5",
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"transcript_support_level": 5,
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"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": "ENST00000535615.5"
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],
"gene_symbol": "CARS2",
"gene_hgnc_id": 25695,
"dbsnp": "rs750963303",
"frequency_reference_population": 0.0000014243615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142436,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7397480010986328,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.2634,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.601,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024537.4",
"gene_symbol": "CARS2",
"hgnc_id": 25695,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1574C>G",
"hgvs_p": "p.Ala525Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}