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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: 16-1448407-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1448407&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1448407,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001287.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1961C>G",
"hgvs_p": "p.Thr654Arg",
"transcript": "NM_001287.6",
"protein_id": "NP_001278.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 805,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382745.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1961C>G",
"hgvs_p": "p.Thr654Arg",
"transcript": "ENST00000382745.9",
"protein_id": "ENSP00000372193.4",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 805,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382745.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Thr630Arg",
"transcript": "ENST00000262318.12",
"protein_id": "ENSP00000262318.8",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 901,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262318.12"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2042C>G",
"hgvs_p": "p.Thr681Arg",
"transcript": "ENST00000892994.1",
"protein_id": "ENSP00000563053.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 832,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892994.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2042C>G",
"hgvs_p": "p.Thr681Arg",
"transcript": "ENST00000892996.1",
"protein_id": "ENSP00000563055.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 832,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892996.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.2033C>G",
"hgvs_p": "p.Thr678Arg",
"transcript": "ENST00000892992.1",
"protein_id": "ENSP00000563051.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 829,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892992.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1988C>G",
"hgvs_p": "p.Thr663Arg",
"transcript": "ENST00000971708.1",
"protein_id": "ENSP00000641767.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 814,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971708.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1961C>G",
"hgvs_p": "p.Thr654Arg",
"transcript": "ENST00000699947.1",
"protein_id": "ENSP00000514703.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 808,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699947.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1961C>G",
"hgvs_p": "p.Thr654Arg",
"transcript": "ENST00000892995.1",
"protein_id": "ENSP00000563054.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 793,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892995.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1898C>G",
"hgvs_p": "p.Thr633Arg",
"transcript": "ENST00000917692.1",
"protein_id": "ENSP00000587751.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 784,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917692.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Thr630Arg",
"transcript": "NM_001114331.3",
"protein_id": "NP_001107803.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 781,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114331.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Thr630Arg",
"transcript": "ENST00000892993.1",
"protein_id": "ENSP00000563052.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 781,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892993.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1961C>G",
"hgvs_p": "p.Thr654Arg",
"transcript": "ENST00000892998.1",
"protein_id": "ENSP00000563057.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 778,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892998.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1868C>G",
"hgvs_p": "p.Thr623Arg",
"transcript": "ENST00000892997.1",
"protein_id": "ENSP00000563056.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 774,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892997.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1844C>G",
"hgvs_p": "p.Thr615Arg",
"transcript": "ENST00000917694.1",
"protein_id": "ENSP00000587753.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 766,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917694.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1826C>G",
"hgvs_p": "p.Thr609Arg",
"transcript": "ENST00000971709.1",
"protein_id": "ENSP00000641768.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 760,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971709.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1739C>G",
"hgvs_p": "p.Thr580Arg",
"transcript": "ENST00000917693.1",
"protein_id": "ENSP00000587752.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 731,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917693.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1787C>G",
"hgvs_p": "p.Thr596Arg",
"transcript": "XM_011522354.2",
"protein_id": "XP_011520656.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 747,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522354.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.2030C>G",
"hgvs_p": null,
"transcript": "ENST00000563642.6",
"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": "retained_intron",
"feature": "ENST00000563642.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.996C>G",
"hgvs_p": null,
"transcript": "ENST00000565092.6",
"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": "retained_intron",
"feature": "ENST00000565092.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.462C>G",
"hgvs_p": null,
"transcript": "ENST00000567789.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.202C>G",
"hgvs_p": null,
"transcript": "ENST00000567836.2",
"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": "retained_intron",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "CLCN7",
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"hgvs_c": "n.*274C>G",
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"transcript": "ENST00000699948.1",
"protein_id": "ENSP00000514704.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699948.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
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"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
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"hgvs_c": "n.*274C>G",
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"transcript": "ENST00000699948.1",
"protein_id": "ENSP00000514704.1",
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"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": "nonsense_mediated_decay",
"feature": "ENST00000699948.1"
}
],
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"dbsnp": "rs114827619",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84765e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30049818754196167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.449,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.551,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001287.6",
"gene_symbol": "CLCN7",
"hgnc_id": 2025,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1961C>G",
"hgvs_p": "p.Thr654Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}