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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: 11-18396895-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18396895&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18396895,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001165414.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "NM_005566.4",
"protein_id": "NP_005557.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422447.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005566.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000422447.8",
"protein_id": "ENSP00000395337.3",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005566.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422447.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000542179.1",
"protein_id": "ENSP00000445331.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542179.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "n.53C>T",
"hgvs_p": null,
"transcript": "ENST00000545215.5",
"protein_id": "ENSP00000442637.1",
"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": "ENST00000545215.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Thr47Ile",
"transcript": "NM_001165414.2",
"protein_id": "NP_001158886.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 361,
"cds_start": 140,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165414.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Thr47Ile",
"transcript": "ENST00000379412.9",
"protein_id": "ENSP00000368722.6",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 361,
"cds_start": 140,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379412.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859177.1",
"protein_id": "ENSP00000529236.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859177.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859178.1",
"protein_id": "ENSP00000529237.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859178.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859181.1",
"protein_id": "ENSP00000529240.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859181.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859182.1",
"protein_id": "ENSP00000529241.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859182.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000911978.1",
"protein_id": "ENSP00000582037.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911978.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000911989.1",
"protein_id": "ENSP00000582048.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911989.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000969388.1",
"protein_id": "ENSP00000639447.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969388.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000969389.1",
"protein_id": "ENSP00000639448.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969389.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000969390.1",
"protein_id": "ENSP00000639449.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 332,
"cds_start": 53,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969390.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000969387.1",
"protein_id": "ENSP00000639446.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 331,
"cds_start": 53,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969387.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000911977.1",
"protein_id": "ENSP00000582036.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 330,
"cds_start": 53,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911977.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859176.1",
"protein_id": "ENSP00000529235.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 326,
"cds_start": 53,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859176.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859179.1",
"protein_id": "ENSP00000529238.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 313,
"cds_start": 53,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859179.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000859180.1",
"protein_id": "ENSP00000529239.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 307,
"cds_start": 53,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859180.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000911990.1",
"protein_id": "ENSP00000582049.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 304,
"cds_start": 53,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911990.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Thr18Ile",
"transcript": "ENST00000911987.1",
"protein_id": "ENSP00000582046.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 282,
"cds_start": 53,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911987.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 6,
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{
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"strand": true,
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],
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"gene_symbol": "LDHA",
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"transcript": "ENST00000543695.5",
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{
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],
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"gene_symbol": "LDHA",
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"transcript": "ENST00000545467.5",
"protein_id": "ENSP00000443545.1",
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"biotype": "nonsense_mediated_decay",
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},
{
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"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"gene_symbol": "LDHA",
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"hgvs_c": "n.151C>T",
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"transcript": "NR_028500.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028500.2"
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],
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"dbsnp": "rs537487381",
"frequency_reference_population": 0.000007442525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000273927,
"gnomad_genomes_af": 0.0000525928,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.062236934900283813,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0653,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.477,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001165414.2",
"gene_symbol": "LDHA",
"hgnc_id": 6535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.140C>T",
"hgvs_p": "p.Thr47Ile"
}
],
"clinvar_disease": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}