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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: 9-131588921-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131588921&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131588921,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001377935.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2933A>C",
"hgvs_p": "p.Asn978Thr",
"transcript": "NM_001377935.1",
"protein_id": "NP_001364864.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1263,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "ENST00000683357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2933A>C",
"hgvs_p": "p.Asn978Thr",
"transcript": "ENST00000683357.1",
"protein_id": "ENSP00000508246.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1263,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3179,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "NM_001377935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2429A>C",
"hgvs_p": "p.Asn810Thr",
"transcript": "ENST00000372190.8",
"protein_id": "ENSP00000361264.3",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2429,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2426A>C",
"hgvs_p": "p.Asn809Thr",
"transcript": "ENST00000372195.5",
"protein_id": "ENSP00000361269.1",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2426,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2375A>C",
"hgvs_p": "p.Asn792Thr",
"transcript": "ENST00000372189.7",
"protein_id": "ENSP00000361263.2",
"transcript_support_level": 1,
"aa_start": 792,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2822A>C",
"hgvs_p": "p.Asn941Thr",
"transcript": "NM_001377938.1",
"protein_id": "NP_001364867.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3068,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2429A>C",
"hgvs_p": "p.Asn810Thr",
"transcript": "NM_198679.2",
"protein_id": "NP_941372.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2429,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2426A>C",
"hgvs_p": "p.Asn809Thr",
"transcript": "NM_001304275.2",
"protein_id": "NP_001291204.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2426,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2672,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2375A>C",
"hgvs_p": "p.Asn792Thr",
"transcript": "NM_005312.4",
"protein_id": "NP_005303.2",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2372A>C",
"hgvs_p": "p.Asn791Thr",
"transcript": "NM_001377936.1",
"protein_id": "NP_001364865.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2372,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2312A>C",
"hgvs_p": "p.Asn771Thr",
"transcript": "NM_001377937.1",
"protein_id": "NP_001364866.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2312,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Asn219Thr",
"transcript": "ENST00000414781.1",
"protein_id": "ENSP00000407210.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 317,
"cds_start": 656,
"cds_end": null,
"cds_length": 956,
"cdna_start": 657,
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"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2963A>C",
"hgvs_p": "p.Asn988Thr",
"transcript": "XM_011518571.3",
"protein_id": "XP_011516873.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2963,
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"cds_length": 3822,
"cdna_start": 3122,
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"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2960A>C",
"hgvs_p": "p.Asn987Thr",
"transcript": "XM_011518572.3",
"protein_id": "XP_011516874.1",
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"cds_start": 2960,
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"cdna_start": 3206,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2954A>C",
"hgvs_p": "p.Asn985Thr",
"transcript": "XM_006717067.4",
"protein_id": "XP_006717130.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1270,
"cds_start": 2954,
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"cds_length": 3813,
"cdna_start": 3154,
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"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2936A>C",
"hgvs_p": "p.Asn979Thr",
"transcript": "XM_005272186.5",
"protein_id": "XP_005272243.1",
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"aa_start": 979,
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"cds_start": 2936,
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"cdna_start": 3182,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2885A>C",
"hgvs_p": "p.Asn962Thr",
"transcript": "XM_017014633.2",
"protein_id": "XP_016870122.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1247,
"cds_start": 2885,
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"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2867A>C",
"hgvs_p": "p.Asn956Thr",
"transcript": "XM_017014635.3",
"protein_id": "XP_016870124.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2867,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2843A>C",
"hgvs_p": "p.Asn948Thr",
"transcript": "XM_017014636.3",
"protein_id": "XP_016870125.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2840A>C",
"hgvs_p": "p.Asn947Thr",
"transcript": "XM_006717072.4",
"protein_id": "XP_006717135.1",
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"aa_start": 947,
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"cds_start": 2840,
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"cdna_start": 3040,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2825A>C",
"hgvs_p": "p.Asn942Thr",
"transcript": "XM_047423251.1",
"protein_id": "XP_047279207.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2825,
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"cdna_start": 2984,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2771A>C",
"hgvs_p": "p.Asn924Thr",
"transcript": "XM_047423252.1",
"protein_id": "XP_047279208.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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],
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.104,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "RAPGEF1",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"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
}