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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: 11-72080391-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72080391&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72080391,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000307198.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-174G>A",
"hgvs_p": null,
"transcript": "ENST00000537217.5",
"protein_id": "ENSP00000442936.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRTOMT",
"gene_hgnc_id": 25033,
"hgvs_c": "c.-816C>T",
"hgvs_p": null,
"transcript": "ENST00000307198.11",
"protein_id": "ENSP00000305742.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-103+67G>A",
"hgvs_p": null,
"transcript": "NM_006185.4",
"protein_id": "NP_006176.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2115,
"cds_start": -4,
"cds_end": null,
"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "ENST00000393695.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-103+67G>A",
"hgvs_p": null,
"transcript": "ENST00000393695.8",
"protein_id": "ENSP00000377298.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2115,
"cds_start": -4,
"cds_end": null,
"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "NM_006185.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "n.236+67G>A",
"hgvs_p": null,
"transcript": "ENST00000543450.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3339,
"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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "n.152G>A",
"hgvs_p": null,
"transcript": "NR_104476.2",
"protein_id": null,
"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": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-550C>T",
"hgvs_p": null,
"transcript": "ENST00000538413.6",
"protein_id": "ENSP00000438762.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC51",
"gene_hgnc_id": 55526,
"hgvs_c": "c.-511C>T",
"hgvs_p": null,
"transcript": "ENST00000642648.1",
"protein_id": "ENSP00000494362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-295G>A",
"hgvs_p": null,
"transcript": "ENST00000541719.5",
"protein_id": "ENSP00000438331.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-327G>A",
"hgvs_p": null,
"transcript": "ENST00000535111.5",
"protein_id": "ENSP00000441674.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": -4,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-301G>A",
"hgvs_p": null,
"transcript": "XM_011545059.3",
"protein_id": "XP_011543361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2133,
"cds_start": -4,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-295G>A",
"hgvs_p": null,
"transcript": "XM_011545060.3",
"protein_id": "XP_011543362.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-174G>A",
"hgvs_p": null,
"transcript": "XM_024448555.2",
"protein_id": "XP_024304323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2133,
"cds_start": -4,
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"cdna_start": null,
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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": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-174G>A",
"hgvs_p": null,
"transcript": "XM_047426998.1",
"protein_id": "XP_047282954.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-295G>A",
"hgvs_p": null,
"transcript": "XM_047427000.1",
"protein_id": "XP_047282956.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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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": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-301G>A",
"hgvs_p": null,
"transcript": "XM_047427005.1",
"protein_id": "XP_047282961.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-174G>A",
"hgvs_p": null,
"transcript": "XM_024448556.2",
"protein_id": "XP_024304324.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-301G>A",
"hgvs_p": null,
"transcript": "XM_047427012.1",
"protein_id": "XP_047282968.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-295G>A",
"hgvs_p": null,
"transcript": "XM_047427013.1",
"protein_id": "XP_047282969.1",
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},
{
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"protein_coding": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "NUMA1",
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"hgvs_c": "c.-174G>A",
"hgvs_p": null,
"transcript": "XM_047427018.1",
"protein_id": "XP_047282974.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-295G>A",
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"transcript": "XM_047427021.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-301G>A",
"hgvs_p": null,
"transcript": "XM_047427022.1",
"protein_id": "XP_047282978.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2101,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7421,
"mane_select": null,
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.-201+67G>A",
"hgvs_p": null,
"transcript": "NM_001286561.2",
"protein_id": "NP_001273490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2101,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7254,
"mane_select": null,
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{
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],
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"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000307198.11",
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"effects": [
"5_prime_UTR_variant"
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"inheritance_mode": "AR",
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},
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006185.4",
"gene_symbol": "NUMA1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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},
{
"score": -4,
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],
"verdict": "Likely_benign",
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"gene_symbol": "LRRC51",
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"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-550C>T",
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}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 63",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 63",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}