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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: 1-108929757-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108929757&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 108929757,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000264126.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "NM_013296.5",
"protein_id": "NP_037428.3",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "ENST00000264126.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "ENST00000264126.9",
"protein_id": "ENSP00000264126.3",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "NM_013296.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCC1",
"gene_hgnc_id": 29675,
"hgvs_c": "c.*2790C>T",
"hgvs_p": null,
"transcript": "NM_001377458.1",
"protein_id": "NP_001364387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "ENST00000369969.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCC1",
"gene_hgnc_id": 29675,
"hgvs_c": "c.*2790C>T",
"hgvs_p": null,
"transcript": "ENST00000369969.7",
"protein_id": "ENSP00000358986.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "NM_001377458.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Pro641Pro",
"transcript": "ENST00000674914.1",
"protein_id": "ENSP00000501579.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 701,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Pro641Pro",
"transcript": "ENST00000675087.1",
"protein_id": "ENSP00000502020.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 701,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "NM_001321038.2",
"protein_id": "NP_001307967.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "NM_001321039.3",
"protein_id": "NP_001307968.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "ENST00000406462.6",
"protein_id": "ENSP00000385510.1",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "ENST00000446797.2",
"protein_id": "ENSP00000392138.2",
"transcript_support_level": 4,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "ENST00000642355.1",
"protein_id": "ENSP00000496104.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "ENST00000645164.2",
"protein_id": "ENSP00000496756.2",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "ENST00000676184.1",
"protein_id": "ENSP00000502178.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Pro565Pro",
"transcript": "ENST00000675086.1",
"protein_id": "ENSP00000502476.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 625,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "XM_011541302.4",
"protein_id": "XP_011539604.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "XM_017001097.3",
"protein_id": "XP_016856586.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
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"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "XM_017001098.3",
"protein_id": "XP_016856587.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "XM_047418723.1",
"protein_id": "XP_047274679.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1872G>A",
"hgvs_p": "p.Pro624Pro",
"transcript": "XM_047418724.1",
"protein_id": "XP_047274680.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1872,
"cds_end": null,
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"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "XM_006710589.4",
"protein_id": "XP_006710652.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 665,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "n.*589G>A",
"hgvs_p": null,
"transcript": "ENST00000674731.1",
"protein_id": "ENSP00000502401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCC1",
"gene_hgnc_id": 29675,
"hgvs_c": "n.*4263C>T",
"hgvs_p": null,
"transcript": "ENST00000674992.1",
"protein_id": "ENSP00000501696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCC1",
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "GPSM2",
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.956,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000264126.9",
"gene_symbol": "GPSM2",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -4,
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"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000369969.7",
"gene_symbol": "CLCC1",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -4,
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"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000357393.6",
"gene_symbol": "AKNAD1",
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"effects": [
"intron_variant"
],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}