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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: 1-90939340-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=90939340&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 90939340,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000337393.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "NM_201269.3",
"protein_id": "NP_958357.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2014,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": "ENST00000337393.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "ENST00000337393.10",
"protein_id": "ENSP00000337008.5",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2014,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": "NM_201269.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.23-21186A>G",
"hgvs_p": null,
"transcript": "ENST00000347275.9",
"protein_id": "ENSP00000340828.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "NM_001437612.1",
"protein_id": "NP_001424541.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2014,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "NM_001437613.1",
"protein_id": "NP_001424542.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2014,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "NM_001437610.1",
"protein_id": "NP_001424539.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2014,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "NM_001437611.1",
"protein_id": "NP_001424540.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2014,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "ENST00000370440.5",
"protein_id": "ENSP00000359469.1",
"transcript_support_level": 5,
"aa_start": 672,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2014,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_005271257.6",
"protein_id": "XP_005271314.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2014,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_011542258.4",
"protein_id": "XP_011540560.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2014,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 5664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_011542261.4",
"protein_id": "XP_011540563.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2014,
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"cds_length": 4107,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_047431934.1",
"protein_id": "XP_047287890.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 1368,
"cds_start": 2014,
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"cdna_start": 2878,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_047431936.1",
"protein_id": "XP_047287892.1",
"transcript_support_level": null,
"aa_start": 672,
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"cds_start": 2014,
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"cdna_start": 2943,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZNF644",
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"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_047431938.1",
"protein_id": "XP_047287894.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_017002488.3",
"protein_id": "XP_016857977.1",
"transcript_support_level": null,
"aa_start": 672,
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"cds_start": 2014,
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"cdna_start": 2642,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_017002489.3",
"protein_id": "XP_016857978.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_047431962.1",
"protein_id": "XP_047287918.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly",
"transcript": "XM_047431965.1",
"protein_id": "XP_047287921.1",
"transcript_support_level": null,
"aa_start": 672,
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"cds_start": 2014,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZNF644",
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"hgvs_c": "c.2014A>G",
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"transcript": "XM_047431973.1",
"protein_id": "XP_047287929.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.23-21186A>G",
"hgvs_p": null,
"transcript": "NM_016620.4",
"protein_id": "NP_057704.2",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "ZNF644",
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"transcript": "NM_032186.5",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.23-21186A>G",
"hgvs_p": null,
"transcript": "ENST00000361321.5",
"protein_id": "ENSP00000354659.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "n.148-21186A>G",
"hgvs_p": null,
"transcript": "ENST00000467231.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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{
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{
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{
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}
],
"gene_symbol": "ZNF644",
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"dbsnp": "rs387907109",
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"computational_score_selected": 0.12133485078811646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 1,
"criteria": [
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"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000337393.10",
"gene_symbol": "ZNF644",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Ser672Gly"
}
],
"clinvar_disease": " autosomal dominant,Myopia 21",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myopia 21, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}