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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: 9-131584579-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131584579&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131584579,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001377935.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3251T>C",
"hgvs_p": "p.Met1084Thr",
"transcript": "NM_001377935.1",
"protein_id": "NP_001364864.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "ENST00000683357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3251T>C",
"hgvs_p": "p.Met1084Thr",
"transcript": "ENST00000683357.1",
"protein_id": "ENSP00000508246.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "NM_001377935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "ENST00000372190.8",
"protein_id": "ENSP00000361264.3",
"transcript_support_level": 1,
"aa_start": 916,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2744T>C",
"hgvs_p": "p.Met915Thr",
"transcript": "ENST00000372195.5",
"protein_id": "ENSP00000361269.1",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2693T>C",
"hgvs_p": "p.Met898Thr",
"transcript": "ENST00000372189.7",
"protein_id": "ENSP00000361263.2",
"transcript_support_level": 1,
"aa_start": 898,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3140T>C",
"hgvs_p": "p.Met1047Thr",
"transcript": "NM_001377938.1",
"protein_id": "NP_001364867.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2747T>C",
"hgvs_p": "p.Met916Thr",
"transcript": "NM_198679.2",
"protein_id": "NP_941372.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2744T>C",
"hgvs_p": "p.Met915Thr",
"transcript": "NM_001304275.2",
"protein_id": "NP_001291204.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2693T>C",
"hgvs_p": "p.Met898Thr",
"transcript": "NM_005312.4",
"protein_id": "NP_005303.2",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2690T>C",
"hgvs_p": "p.Met897Thr",
"transcript": "NM_001377936.1",
"protein_id": "NP_001364865.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2630T>C",
"hgvs_p": "p.Met877Thr",
"transcript": "NM_001377937.1",
"protein_id": "NP_001364866.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3281T>C",
"hgvs_p": "p.Met1094Thr",
"transcript": "XM_011518571.3",
"protein_id": "XP_011516873.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3278T>C",
"hgvs_p": "p.Met1093Thr",
"transcript": "XM_011518572.3",
"protein_id": "XP_011516874.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3278,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3524,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3272T>C",
"hgvs_p": "p.Met1091Thr",
"transcript": "XM_006717067.4",
"protein_id": "XP_006717130.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3272,
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"cdna_start": 3472,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3254T>C",
"hgvs_p": "p.Met1085Thr",
"transcript": "XM_005272186.5",
"protein_id": "XP_005272243.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3254,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3500,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3203T>C",
"hgvs_p": "p.Met1068Thr",
"transcript": "XM_017014633.2",
"protein_id": "XP_016870122.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
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"cds_start": 3203,
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"cdna_start": 3236,
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"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3185T>C",
"hgvs_p": "p.Met1062Thr",
"transcript": "XM_017014635.3",
"protein_id": "XP_016870124.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 6766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3161T>C",
"hgvs_p": "p.Met1054Thr",
"transcript": "XM_017014636.3",
"protein_id": "XP_016870125.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3161,
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"cds_length": 3702,
"cdna_start": 3479,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3158T>C",
"hgvs_p": "p.Met1053Thr",
"transcript": "XM_006717072.4",
"protein_id": "XP_006717135.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
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"cdna_start": 3358,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3143T>C",
"hgvs_p": "p.Met1048Thr",
"transcript": "XM_047423251.1",
"protein_id": "XP_047279207.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
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"cds_start": 3143,
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"cdna_start": 3302,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3089T>C",
"hgvs_p": "p.Met1030Thr",
"transcript": "XM_047423252.1",
"protein_id": "XP_047279208.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3089,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3122,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2945T>C",
"hgvs_p": "p.Met982Thr",
"transcript": "XM_011518576.4",
"protein_id": "XP_011516878.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2945,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 6408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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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{
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RAPGEF1",
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}
],
"gene_symbol": "RAPGEF1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7247380018234253,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.344,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.861,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001377935.1",
"gene_symbol": "RAPGEF1",
"hgnc_id": 4568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3251T>C",
"hgvs_p": "p.Met1084Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}