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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: 1-23971864-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23971864&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23971864,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000492112.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_054016.4",
"protein_id": "NP_473357.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 262,
"cds_start": 423,
"cds_end": null,
"cds_length": 789,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": "ENST00000492112.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000492112.3",
"protein_id": "ENSP00000420195.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 262,
"cds_start": 423,
"cds_end": null,
"cds_length": 789,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": "NM_054016.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000343255.9",
"protein_id": "ENSP00000344149.4",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 261,
"cds_start": 423,
"cds_end": null,
"cds_length": 786,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000344989.10",
"protein_id": "ENSP00000342913.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 183,
"cds_start": 423,
"cds_end": null,
"cds_length": 552,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000453840.7",
"protein_id": "ENSP00000388991.3",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 182,
"cds_start": 423,
"cds_end": null,
"cds_length": 549,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000374452.9",
"protein_id": "ENSP00000363576.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 173,
"cds_start": 423,
"cds_end": null,
"cds_length": 522,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000374453.7",
"protein_id": "ENSP00000363577.3",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 172,
"cds_start": 423,
"cds_end": null,
"cds_length": 519,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "ENST00000484146.6",
"protein_id": "ENSP00000419813.2",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 165,
"cds_start": 423,
"cds_end": null,
"cds_length": 498,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001191005.3",
"protein_id": "NP_001177934.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 261,
"cds_start": 423,
"cds_end": null,
"cds_length": 786,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 7653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001300937.2",
"protein_id": "NP_001287866.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 217,
"cds_start": 423,
"cds_end": null,
"cds_length": 654,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_006625.6",
"protein_id": "NP_006616.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 183,
"cds_start": 423,
"cds_end": null,
"cds_length": 552,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001191007.3",
"protein_id": "NP_001177936.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 182,
"cds_start": 423,
"cds_end": null,
"cds_length": 549,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001191006.3",
"protein_id": "NP_001177935.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 173,
"cds_start": 423,
"cds_end": null,
"cds_length": 522,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001300936.2",
"protein_id": "NP_001287865.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 172,
"cds_start": 423,
"cds_end": null,
"cds_length": 519,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser",
"transcript": "NM_001191009.3",
"protein_id": "NP_001177938.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 165,
"cds_start": 423,
"cds_end": null,
"cds_length": 498,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "c.138G>T",
"hgvs_p": "p.Ser46Ser",
"transcript": "XM_017000102.3",
"protein_id": "XP_016855591.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 167,
"cds_start": 138,
"cds_end": null,
"cds_length": 504,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 8135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.283G>T",
"hgvs_p": null,
"transcript": "ENST00000338597.9",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.1492G>T",
"hgvs_p": null,
"transcript": "ENST00000341154.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.228G>T",
"hgvs_p": null,
"transcript": "ENST00000473754.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.*91G>T",
"hgvs_p": null,
"transcript": "ENST00000473858.5",
"protein_id": "ENSP00000473293.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.2828G>T",
"hgvs_p": null,
"transcript": "ENST00000485841.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.*639G>T",
"hgvs_p": null,
"transcript": "ENST00000495785.1",
"protein_id": "ENSP00000473291.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF10",
"gene_hgnc_id": 16713,
"hgvs_c": "n.892G>T",
"hgvs_p": null,
"transcript": "NR_034035.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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{
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{
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}
],
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"gnomad_exomes_af": 6.87273e-7,
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"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.139,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000492112.3",
"gene_symbol": "SRSF10",
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"effects": [
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"inheritance_mode": "AD",
"hgvs_c": "c.423G>T",
"hgvs_p": "p.Ser141Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}