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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: 2-17678923-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17678923&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 17678923,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024624.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "NM_001142286.2",
"protein_id": "NP_001135758.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "ENST00000448223.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142286.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000448223.7",
"protein_id": "ENSP00000404092.2",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "NM_001142286.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448223.7"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000351948.8",
"protein_id": "ENSP00000323439.4",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351948.8"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2924T>A",
"hgvs_p": "p.Leu975Gln",
"transcript": "ENST00000922960.1",
"protein_id": "ENSP00000593019.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 5481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922960.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "NM_024624.6",
"protein_id": "NP_078900.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024624.6"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000402989.5",
"protein_id": "ENSP00000384539.1",
"transcript_support_level": 2,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402989.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000922961.1",
"protein_id": "ENSP00000593020.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3025,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922961.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000922962.1",
"protein_id": "ENSP00000593021.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 5162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922962.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000922963.1",
"protein_id": "ENSP00000593022.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3118,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922963.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000960848.1",
"protein_id": "ENSP00000630907.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960848.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000960849.1",
"protein_id": "ENSP00000630908.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3076,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960849.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "ENST00000960851.1",
"protein_id": "ENSP00000630910.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960851.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2765T>A",
"hgvs_p": "p.Leu922Gln",
"transcript": "ENST00000861877.1",
"protein_id": "ENSP00000531936.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2765,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861877.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2765T>A",
"hgvs_p": "p.Leu922Gln",
"transcript": "ENST00000960850.1",
"protein_id": "ENSP00000630909.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2765,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960850.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2699T>A",
"hgvs_p": "p.Leu900Gln",
"transcript": "ENST00000861876.1",
"protein_id": "ENSP00000531935.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861876.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2903T>A",
"hgvs_p": "p.Leu968Gln",
"transcript": "XM_011533107.4",
"protein_id": "XP_011531409.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 7961,
"cdna_end": null,
"cdna_length": 10078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533107.4"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2903T>A",
"hgvs_p": "p.Leu968Gln",
"transcript": "XM_017004913.3",
"protein_id": "XP_016860402.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3093,
"cdna_end": null,
"cdna_length": 5210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004913.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2903T>A",
"hgvs_p": "p.Leu968Gln",
"transcript": "XM_017004914.2",
"protein_id": "XP_016860403.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004914.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2903T>A",
"hgvs_p": "p.Leu968Gln",
"transcript": "XM_047445833.1",
"protein_id": "XP_047301789.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2903,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3741,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445833.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln",
"transcript": "XM_017004915.3",
"protein_id": "XP_016860404.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 7904,
"cdna_end": null,
"cdna_length": 10021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004915.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2822T>A",
"hgvs_p": "p.Leu941Gln",
"transcript": "XM_011533108.4",
"protein_id": "XP_011531410.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2822,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533108.4"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.2822T>A",
"hgvs_p": "p.Leu941Gln",
"transcript": "XM_047445834.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 27,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "SMC6",
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"biotype": "protein_coding",
"feature": "XM_047445836.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 26,
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"gene_symbol": "SMC6",
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"hgvs_c": "c.2765T>A",
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"transcript": "XM_017004916.3",
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"cdna_start": 2955,
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"biotype": "protein_coding",
"feature": "XM_017004916.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "SMC6",
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"transcript": "XM_047445837.1",
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"feature": "XM_047445837.1"
},
{
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"consequences": [
"missense_variant"
],
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"gene_symbol": "SMC6",
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"transcript": "XM_047445838.1",
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"biotype": "protein_coding",
"feature": "XM_047445838.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "SMC6",
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"hgvs_c": "n.3094T>A",
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"transcript": "ENST00000481708.1",
"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": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481708.1"
}
],
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"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": 0.8729227185249329,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.535,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.677,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024624.6",
"gene_symbol": "SMC6",
"hgnc_id": 20466,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2846T>A",
"hgvs_p": "p.Leu949Gln"
}
],
"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
}