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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: 9-18574136-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=18574136&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 18574136,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001040272.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "NM_001040272.6",
"protein_id": "NP_001035362.3",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 1762,
"cds_start": 344,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380548.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040272.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000380548.9",
"protein_id": "ENSP00000369921.4",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 1762,
"cds_start": 344,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040272.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380548.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000327883.11",
"protein_id": "ENSP00000327887.7",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 525,
"cds_start": 344,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327883.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000380566.8",
"protein_id": "ENSP00000369940.4",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 439,
"cds_start": 344,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380566.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000380570.8",
"protein_id": "ENSP00000369944.4",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 219,
"cds_start": 344,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380570.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.-107C>T",
"hgvs_p": null,
"transcript": "XM_017015313.1",
"protein_id": "XP_016870802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.-107C>T",
"hgvs_p": null,
"transcript": "XM_047424074.1",
"protein_id": "XP_047280030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.-107C>T",
"hgvs_p": null,
"transcript": "XM_047424076.1",
"protein_id": "XP_047280032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424076.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"transcript": "ENST00000680146.1",
"protein_id": "ENSP00000505591.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 1810,
"cds_start": 488,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680146.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000872893.1",
"protein_id": "ENSP00000542952.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 1618,
"cds_start": 344,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872893.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000276935.6",
"protein_id": "ENSP00000276935.5",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 683,
"cds_start": 344,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276935.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "NM_052866.5",
"protein_id": "NP_443098.3",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 525,
"cds_start": 344,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052866.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000431052.6",
"protein_id": "ENSP00000401157.2",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 185,
"cds_start": 344,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431052.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "XM_011518063.3",
"protein_id": "XP_011516365.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1828,
"cds_start": 542,
"cds_end": null,
"cds_length": 5487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518063.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Pro167Leu",
"transcript": "XM_017015310.2",
"protein_id": "XP_016870799.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1814,
"cds_start": 500,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015310.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "XM_011518064.4",
"protein_id": "XP_011516366.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1813,
"cds_start": 497,
"cds_end": null,
"cds_length": 5442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518064.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "XM_017015311.2",
"protein_id": "XP_016870800.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1811,
"cds_start": 542,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015311.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "XM_047424072.1",
"protein_id": "XP_047280028.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1802,
"cds_start": 464,
"cds_end": null,
"cds_length": 5409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424072.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Pro166Leu",
"transcript": "XM_017015312.3",
"protein_id": "XP_016870801.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 1796,
"cds_start": 497,
"cds_end": null,
"cds_length": 5391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015312.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "XM_047424073.1",
"protein_id": "XP_047280029.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 1745,
"cds_start": 344,
"cds_end": null,
"cds_length": 5238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424073.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "XM_017015314.2",
"protein_id": "XP_016870803.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1495,
"cds_start": 542,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015314.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Pro181Leu",
"transcript": "XM_047424077.1",
"protein_id": "XP_047280033.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1478,
"cds_start": 542,
"cds_end": null,
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"cdna_start": null,
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{
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"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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{
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"feature": "XM_047424074.1"
},
{
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],
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"gene_symbol": "ADAMTSL1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047424076.1"
}
],
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"dbsnp": "rs1292531675",
"frequency_reference_population": 0.0000020521802,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205218,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25586140155792236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.1274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.009,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040272.6",
"gene_symbol": "ADAMTSL1",
"hgnc_id": 14632,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu"
}
],
"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
}