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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: 11-18402940-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18402940&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18402940,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001165414.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "NM_005566.4",
"protein_id": "NP_005557.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000422447.8",
"protein_id": "ENSP00000395337.3",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000542179.1",
"protein_id": "ENSP00000445331.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "n.*263A>G",
"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": 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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "n.*263A>G",
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.606A>G",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001165414.2",
"protein_id": "NP_001158886.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 361,
"cds_start": 606,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.606A>G",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000379412.9",
"protein_id": "ENSP00000368722.6",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 361,
"cds_start": 606,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859177.1",
"protein_id": "ENSP00000529236.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859178.1",
"protein_id": "ENSP00000529237.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859181.1",
"protein_id": "ENSP00000529240.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859182.1",
"protein_id": "ENSP00000529241.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000911978.1",
"protein_id": "ENSP00000582037.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000911989.1",
"protein_id": "ENSP00000582048.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000969388.1",
"protein_id": "ENSP00000639447.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000969389.1",
"protein_id": "ENSP00000639448.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000969390.1",
"protein_id": "ENSP00000639449.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 332,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000969387.1",
"protein_id": "ENSP00000639446.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 331,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.513A>G",
"hgvs_p": "p.Leu171Leu",
"transcript": "ENST00000911977.1",
"protein_id": "ENSP00000582036.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 330,
"cds_start": 513,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859176.1",
"protein_id": "ENSP00000529235.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 326,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859179.1",
"protein_id": "ENSP00000529238.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 313,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.519A>G",
"hgvs_p": "p.Leu173Leu",
"transcript": "ENST00000859180.1",
"protein_id": "ENSP00000529239.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 307,
"cds_start": 519,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Leu145Leu",
"transcript": "ENST00000911990.1",
"protein_id": "ENSP00000582049.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 304,
"cds_start": 435,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
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{
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{
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{
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{
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{
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"downstream_gene_variant"
],
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"gene_symbol": "LDHA",
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"hgvs_c": "c.*49A>G",
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"transcript": "ENST00000543445.5",
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"biotype": "protein_coding",
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],
"gene_symbol": "LDHA",
"gene_hgnc_id": 6535,
"dbsnp": "rs4820",
"frequency_reference_population": 0.7091462,
"hom_count_reference_population": 407963,
"allele_count_reference_population": 1139527,
"gnomad_exomes_af": 0.715232,
"gnomad_genomes_af": 0.650927,
"gnomad_exomes_ac": 1040534,
"gnomad_genomes_ac": 98993,
"gnomad_exomes_homalt": 374708,
"gnomad_genomes_homalt": 33255,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.094,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001165414.2",
"gene_symbol": "LDHA",
"hgnc_id": 6535,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.606A>G",
"hgvs_p": "p.Leu202Leu"
}
],
"clinvar_disease": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided|Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}