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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: 9-81590968-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81590968&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 81590968,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303103.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"transcript": "NM_005077.5",
"protein_id": "NP_005068.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 770,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "ENST00000376499.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005077.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"transcript": "ENST00000376499.8",
"protein_id": "ENSP00000365682.3",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 770,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": "NM_005077.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376499.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Ile601Val",
"transcript": "ENST00000946444.1",
"protein_id": "ENSP00000616503.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 815,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946444.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Ile590Val",
"transcript": "ENST00000946428.1",
"protein_id": "ENSP00000616487.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 804,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946428.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Ile589Val",
"transcript": "ENST00000946430.1",
"protein_id": "ENSP00000616489.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 803,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946430.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Ile589Val",
"transcript": "ENST00000946435.1",
"protein_id": "ENSP00000616494.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 803,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946435.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "ENST00000946437.1",
"protein_id": "ENSP00000616496.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 802,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 3046,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946437.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1723A>G",
"hgvs_p": "p.Ile575Val",
"transcript": "ENST00000946433.1",
"protein_id": "ENSP00000616492.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 789,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946433.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1696A>G",
"hgvs_p": "p.Ile566Val",
"transcript": "NM_001303103.2",
"protein_id": "NP_001290032.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 780,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303103.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Ile565Val",
"transcript": "ENST00000946443.1",
"protein_id": "ENSP00000616502.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 779,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946443.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1690A>G",
"hgvs_p": "p.Ile564Val",
"transcript": "ENST00000946442.1",
"protein_id": "ENSP00000616501.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 778,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946442.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1663A>G",
"hgvs_p": "p.Ile555Val",
"transcript": "ENST00000946426.1",
"protein_id": "ENSP00000616485.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 769,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946426.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1663A>G",
"hgvs_p": "p.Ile555Val",
"transcript": "ENST00000946429.1",
"protein_id": "ENSP00000616488.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 769,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 3069,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946429.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Ile554Val",
"transcript": "ENST00000946438.1",
"protein_id": "ENSP00000616497.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 768,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2939,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946438.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1627A>G",
"hgvs_p": "p.Ile543Val",
"transcript": "ENST00000946432.1",
"protein_id": "ENSP00000616491.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 757,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946432.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1621A>G",
"hgvs_p": "p.Ile541Val",
"transcript": "NM_001303104.2",
"protein_id": "NP_001290033.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 755,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303104.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Ile540Val",
"transcript": "ENST00000946436.1",
"protein_id": "ENSP00000616495.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 754,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946436.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1603A>G",
"hgvs_p": "p.Ile535Val",
"transcript": "ENST00000946434.1",
"protein_id": "ENSP00000616493.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 749,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2909,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946434.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1576A>G",
"hgvs_p": "p.Ile526Val",
"transcript": "ENST00000879081.1",
"protein_id": "ENSP00000549140.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 740,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879081.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1573A>G",
"hgvs_p": "p.Ile525Val",
"transcript": "ENST00000879086.1",
"protein_id": "ENSP00000549145.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 739,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879086.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1546A>G",
"hgvs_p": "p.Ile516Val",
"transcript": "ENST00000879080.1",
"protein_id": "ENSP00000549139.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 730,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879080.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1543A>G",
"hgvs_p": "p.Ile515Val",
"transcript": "ENST00000879084.1",
"protein_id": "ENSP00000549143.1",
"transcript_support_level": null,
"aa_start": 515,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.1581+2057A>G",
"hgvs_p": null,
"transcript": "ENST00000946431.1",
"protein_id": "ENSP00000616490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946431.1"
},
{
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"hgvs_c": "c.972-3140A>G",
"hgvs_p": null,
"transcript": "ENST00000946441.1",
"protein_id": "ENSP00000616500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946441.1"
}
],
"gene_symbol": "TLE1",
"gene_hgnc_id": 11837,
"dbsnp": "rs996592604",
"frequency_reference_population": 0.0000027361802,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273618,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6121561527252197,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.218,
"revel_prediction": "Benign",
"alphamissense_score": 0.1206,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"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_001303103.2",
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1696A>G",
"hgvs_p": "p.Ile566Val"
}
],
"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
}