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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: 3-47496124-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47496124&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47496124,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001031703.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Ile249Thr",
"transcript": "NM_001031703.3",
"protein_id": "NP_001026873.2",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 746,
"cds_end": null,
"cds_length": 801,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "ENST00000296149.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Ile249Thr",
"transcript": "ENST00000296149.9",
"protein_id": "ENSP00000296149.4",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 266,
"cds_start": 746,
"cds_end": null,
"cds_length": 801,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": "NM_001031703.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.770T>C",
"hgvs_p": "p.Ile257Thr",
"transcript": "NM_001424210.1",
"protein_id": "NP_001411139.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 274,
"cds_start": 770,
"cds_end": null,
"cds_length": 825,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "NM_001424211.1",
"protein_id": "NP_001411140.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 263,
"cds_start": 737,
"cds_end": null,
"cds_length": 792,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "NM_001424212.1",
"protein_id": "NP_001411141.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 263,
"cds_start": 737,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "NM_001424213.1",
"protein_id": "NP_001411142.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 263,
"cds_start": 737,
"cds_end": null,
"cds_length": 792,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "NM_001424214.1",
"protein_id": "NP_001411143.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 249,
"cds_start": 695,
"cds_end": null,
"cds_length": 750,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Ile200Thr",
"transcript": "NM_001424215.1",
"protein_id": "NP_001411144.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 217,
"cds_start": 599,
"cds_end": null,
"cds_length": 654,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Ile200Thr",
"transcript": "NM_001424216.1",
"protein_id": "NP_001411145.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 217,
"cds_start": 599,
"cds_end": null,
"cds_length": 654,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Ile200Thr",
"transcript": "NM_001424217.1",
"protein_id": "NP_001411146.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 217,
"cds_start": 599,
"cds_end": null,
"cds_length": 654,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Ile200Thr",
"transcript": "NM_001424218.1",
"protein_id": "NP_001411147.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 217,
"cds_start": 599,
"cds_end": null,
"cds_length": 654,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.596T>C",
"hgvs_p": "p.Ile199Thr",
"transcript": "NM_001424219.1",
"protein_id": "NP_001411148.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 216,
"cds_start": 596,
"cds_end": null,
"cds_length": 651,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001363957.1",
"protein_id": "NP_001350886.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424220.1",
"protein_id": "NP_001411149.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424222.1",
"protein_id": "NP_001411151.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424223.1",
"protein_id": "NP_001411152.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
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"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424224.1",
"protein_id": "NP_001411153.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424225.1",
"protein_id": "NP_001411154.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424226.1",
"protein_id": "NP_001411155.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 891,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "NM_001424227.1",
"protein_id": "NP_001411156.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "ENST00000439305.5",
"protein_id": "ENSP00000402399.1",
"transcript_support_level": 2,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.527T>C",
"hgvs_p": "p.Ile176Thr",
"transcript": "ENST00000446787.5",
"protein_id": "ENSP00000412593.1",
"transcript_support_level": 3,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP6",
"gene_hgnc_id": 25976,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Ile151Thr",
"transcript": "NM_001424228.1",
"protein_id": "NP_001411157.1",
"transcript_support_level": null,
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},
{
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{
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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"3_prime_UTR_variant"
],
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"transcript": "ENST00000442215.6",
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}
],
"gene_symbol": "ELP6",
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"dbsnp": null,
"frequency_reference_population": 0.0000013680939,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8712835907936096,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9451,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.662,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031703.3",
"gene_symbol": "ELP6",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Ile249Thr"
}
],
"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
}