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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: 1-171324292-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=171324292&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 171324292,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002022.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "NM_002022.3",
"protein_id": "NP_002013.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 558,
"cds_start": 476,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367749.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002022.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000367749.4",
"protein_id": "ENSP00000356723.3",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 558,
"cds_start": 476,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002022.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367749.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000853715.1",
"protein_id": "ENSP00000523774.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 558,
"cds_start": 476,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853715.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000853716.1",
"protein_id": "ENSP00000523775.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 558,
"cds_start": 476,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853716.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"transcript": "ENST00000853711.1",
"protein_id": "ENSP00000523770.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 495,
"cds_start": 287,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853711.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000853710.1",
"protein_id": "ENSP00000523769.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 417,
"cds_start": 476,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853710.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000853712.1",
"protein_id": "ENSP00000523771.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 391,
"cds_start": 476,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853712.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000919758.1",
"protein_id": "ENSP00000589817.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 381,
"cds_start": 476,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919758.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000853709.1",
"protein_id": "ENSP00000523768.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 326,
"cds_start": 476,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853709.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "ENST00000959334.1",
"protein_id": "ENSP00000629393.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 326,
"cds_start": 476,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959334.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"transcript": "ENST00000853713.1",
"protein_id": "ENSP00000523772.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 318,
"cds_start": 287,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853713.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"transcript": "ENST00000959333.1",
"protein_id": "ENSP00000629392.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 263,
"cds_start": 287,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959333.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.326C>A",
"hgvs_p": "p.Ala109Asp",
"transcript": "XM_005245045.4",
"protein_id": "XP_005245102.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 508,
"cds_start": 326,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245045.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"transcript": "XM_005245046.4",
"protein_id": "XP_005245103.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 495,
"cds_start": 287,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245046.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "XM_011509347.3",
"protein_id": "XP_011507649.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 469,
"cds_start": 476,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509347.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.47C>A",
"hgvs_p": "p.Ala16Asp",
"transcript": "XM_011509348.3",
"protein_id": "XP_011507650.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 415,
"cds_start": 47,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509348.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ala96Asp",
"transcript": "XM_047416219.1",
"protein_id": "XP_047272175.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 406,
"cds_start": 287,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416219.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "XM_006711243.4",
"protein_id": "XP_006711306.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 381,
"cds_start": 476,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711243.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "XM_005245048.4",
"protein_id": "XP_005245105.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 326,
"cds_start": 476,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245048.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "XM_047416228.1",
"protein_id": "XP_047272184.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 292,
"cds_start": 476,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416228.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp",
"transcript": "XM_047416232.1",
"protein_id": "XP_047272188.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 278,
"cds_start": 476,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "c.132+4335C>A",
"hgvs_p": null,
"transcript": "ENST00000853714.1",
"protein_id": "ENSP00000523773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "n.242C>A",
"hgvs_p": null,
"transcript": "ENST00000462992.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462992.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"hgvs_c": "n.651+1100C>A",
"hgvs_p": null,
"transcript": "ENST00000475780.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475780.5"
}
],
"gene_symbol": "FMO4",
"gene_hgnc_id": 3772,
"dbsnp": "rs772696218",
"frequency_reference_population": 0.0000037379543,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000344113,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14881548285484314,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.0882,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.685,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002022.3",
"gene_symbol": "FMO4",
"hgnc_id": 3772,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Asp"
}
],
"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
}