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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: 8-38394218-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38394218&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38394218,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286819.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "NM_001286819.2",
"protein_id": "NP_001273748.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379957.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286819.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "ENST00000379957.9",
"protein_id": "ENSP00000369291.4",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286819.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379957.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Thr161Ala",
"transcript": "ENST00000523983.6",
"protein_id": "ENSP00000428765.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 444,
"cds_start": 481,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523983.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.*1202A>G",
"hgvs_p": null,
"transcript": "ENST00000519476.6",
"protein_id": "ENSP00000429269.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519476.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.*27A>G",
"hgvs_p": null,
"transcript": "ENST00000523268.6",
"protein_id": "ENSP00000428944.2",
"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": "ENST00000523268.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "n.*27A>G",
"hgvs_p": null,
"transcript": "ENST00000523268.6",
"protein_id": "ENSP00000428944.2",
"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": "ENST00000523268.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "ENST00000948387.1",
"protein_id": "ENSP00000618446.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948387.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Thr161Ala",
"transcript": "NM_001199659.3",
"protein_id": "NP_001186588.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 444,
"cds_start": 481,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199659.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "ENST00000889546.1",
"protein_id": "ENSP00000559605.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 338,
"cds_start": 622,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889546.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.79A>G",
"hgvs_p": "p.Thr27Ala",
"transcript": "NM_001363204.1",
"protein_id": "NP_001350133.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 310,
"cds_start": 79,
"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": "NM_001363204.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.13A>G",
"hgvs_p": "p.Thr5Ala",
"transcript": "NM_001199660.3",
"protein_id": "NP_001186589.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 288,
"cds_start": 13,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199660.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.13A>G",
"hgvs_p": "p.Thr5Ala",
"transcript": "NM_001286787.2",
"protein_id": "NP_001273716.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 288,
"cds_start": 13,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286787.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.13A>G",
"hgvs_p": "p.Thr5Ala",
"transcript": "NM_001363205.1",
"protein_id": "NP_001350134.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 288,
"cds_start": 13,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363205.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_017013051.2",
"protein_id": "XP_016868540.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013051.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_017013052.2",
"protein_id": "XP_016868541.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013052.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_017013053.2",
"protein_id": "XP_016868542.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013053.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_017013054.2",
"protein_id": "XP_016868543.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013054.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_017013055.2",
"protein_id": "XP_016868544.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013055.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_017013056.2",
"protein_id": "XP_016868545.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 491,
"cds_start": 622,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013056.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_047421383.1",
"protein_id": "XP_047277339.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 437,
"cds_start": 622,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421383.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "XM_011544408.3",
"protein_id": "XP_011542710.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 409,
"cds_start": 622,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544408.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LETM2",
"gene_hgnc_id": 14648,
"hgvs_c": "c.*1202A>G",
"hgvs_p": null,
"transcript": "NM_001286821.2",
"protein_id": "NP_001273750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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"feature": "NM_144652.4"
},
{
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],
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{
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],
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{
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],
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"transcript": "ENST00000518883.6",
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"biotype": "nonsense_mediated_decay",
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{
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],
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"gene_symbol": "LETM2",
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"biotype": "pseudogene",
"feature": "XR_007060702.1"
},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "LETM2",
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"hgvs_c": "n.*27A>G",
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"transcript": "ENST00000518883.6",
"protein_id": "ENSP00000429019.2",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518883.6"
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],
"gene_symbol": "LETM2",
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"dbsnp": "rs762551516",
"frequency_reference_population": 0.0000026829143,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000224091,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7724689245223999,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.502,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3026,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.495,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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_001286819.2",
"gene_symbol": "LETM2",
"hgnc_id": 14648,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala"
}
],
"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
}