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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: 5-173090650-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=173090650&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 173090650,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_153607.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "NM_153607.3",
"protein_id": "NP_705835.2",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296953.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153607.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000296953.6",
"protein_id": "ENSP00000296953.2",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153607.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296953.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000520420.5",
"protein_id": "ENSP00000428290.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 417,
"cds_start": 471,
"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": "ENST00000520420.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000522692.5",
"protein_id": "ENSP00000431107.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 417,
"cds_start": 471,
"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": "ENST00000522692.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Pro182Pro",
"transcript": "ENST00000965318.1",
"protein_id": "ENSP00000635377.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 664,
"cds_start": 546,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965318.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000863346.1",
"protein_id": "ENSP00000533405.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863346.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000863347.1",
"protein_id": "ENSP00000533406.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863347.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000934786.1",
"protein_id": "ENSP00000604845.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934786.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965315.1",
"protein_id": "ENSP00000635374.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965315.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965316.1",
"protein_id": "ENSP00000635375.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965316.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965317.1",
"protein_id": "ENSP00000635376.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965317.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965319.1",
"protein_id": "ENSP00000635378.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965319.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965321.1",
"protein_id": "ENSP00000635380.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965321.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965322.1",
"protein_id": "ENSP00000635381.1",
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"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965322.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000934785.1",
"protein_id": "ENSP00000604844.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 632,
"cds_start": 471,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934785.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "ENST00000965320.1",
"protein_id": "ENSP00000635379.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 574,
"cds_start": 471,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965320.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "NM_001168393.2",
"protein_id": "NP_001161865.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 417,
"cds_start": 471,
"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": "NM_001168393.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "NM_001168394.2",
"protein_id": "NP_001161866.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 417,
"cds_start": 471,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168394.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "XM_006714822.5",
"protein_id": "XP_006714885.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714822.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "XM_047416801.1",
"protein_id": "XP_047272757.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416801.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro",
"transcript": "XM_047416802.1",
"protein_id": "XP_047272758.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 639,
"cds_start": 471,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416802.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Pro149Pro",
"transcript": "XM_005265821.4",
"protein_id": "XP_005265878.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 631,
"cds_start": 447,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265821.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Pro149Pro",
"transcript": "XM_011534442.2",
"protein_id": "XP_011532744.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 631,
"cds_start": 447,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534442.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"hgvs_c": "n.748C>T",
"hgvs_p": null,
"transcript": "ENST00000520464.1",
"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": "ENST00000520464.1"
}
],
"gene_symbol": "CREBRF",
"gene_hgnc_id": 24050,
"dbsnp": "rs35768619",
"frequency_reference_population": 0.0018976708,
"hom_count_reference_population": 59,
"allele_count_reference_population": 3063,
"gnomad_exomes_af": 0.00107329,
"gnomad_genomes_af": 0.00981435,
"gnomad_exomes_ac": 1569,
"gnomad_genomes_ac": 1494,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_homalt": 21,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.405,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_153607.3",
"gene_symbol": "CREBRF",
"hgnc_id": 24050,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Pro157Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}