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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: 12-119690229-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119690229&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119690229,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001206999.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6108C>G",
"hgvs_p": "p.Pro2036Pro",
"transcript": "NM_001206999.2",
"protein_id": "NP_001193928.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6108,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392521.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206999.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6108C>G",
"hgvs_p": "p.Pro2036Pro",
"transcript": "ENST00000392521.7",
"protein_id": "ENSP00000376306.2",
"transcript_support_level": 1,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6108,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001206999.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392521.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5982C>G",
"hgvs_p": "p.Pro1994Pro",
"transcript": "ENST00000261833.11",
"protein_id": "ENSP00000261833.7",
"transcript_support_level": 1,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5982,
"cds_end": null,
"cds_length": 6084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261833.11"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6105C>G",
"hgvs_p": "p.Pro2035Pro",
"transcript": "ENST00000928243.1",
"protein_id": "ENSP00000598302.1",
"transcript_support_level": null,
"aa_start": 2035,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6105,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928243.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6105C>G",
"hgvs_p": "p.Pro2035Pro",
"transcript": "ENST00000928244.1",
"protein_id": "ENSP00000598303.1",
"transcript_support_level": null,
"aa_start": 2035,
"aa_end": null,
"aa_length": 2065,
"cds_start": 6105,
"cds_end": null,
"cds_length": 6198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928244.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5982C>G",
"hgvs_p": "p.Pro1994Pro",
"transcript": "NM_007174.3",
"protein_id": "NP_009105.1",
"transcript_support_level": null,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2027,
"cds_start": 5982,
"cds_end": null,
"cds_length": 6084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007174.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5934C>G",
"hgvs_p": "p.Pro1978Pro",
"transcript": "ENST00000867920.1",
"protein_id": "ENSP00000537979.1",
"transcript_support_level": null,
"aa_start": 1978,
"aa_end": null,
"aa_length": 2011,
"cds_start": 5934,
"cds_end": null,
"cds_length": 6036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867920.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4818C>G",
"hgvs_p": "p.Pro1606Pro",
"transcript": "ENST00000392520.2",
"protein_id": "ENSP00000376305.2",
"transcript_support_level": 5,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4818,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392520.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4752C>G",
"hgvs_p": "p.Pro1584Pro",
"transcript": "ENST00000679249.1",
"protein_id": "ENSP00000503976.1",
"transcript_support_level": null,
"aa_start": 1584,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4752,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679249.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4725C>G",
"hgvs_p": "p.Pro1575Pro",
"transcript": "ENST00000676849.1",
"protein_id": "ENSP00000503214.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4725,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676849.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4725C>G",
"hgvs_p": "p.Pro1575Pro",
"transcript": "ENST00000678652.1",
"protein_id": "ENSP00000504849.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4725,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678652.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4710C>G",
"hgvs_p": "p.Pro1570Pro",
"transcript": "ENST00000677993.1",
"protein_id": "ENSP00000503765.1",
"transcript_support_level": null,
"aa_start": 1570,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4710,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677993.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4599C>G",
"hgvs_p": "p.Pro1533Pro",
"transcript": "ENST00000678087.1",
"protein_id": "ENSP00000503863.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4599,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678087.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4512C>G",
"hgvs_p": "p.Pro1504Pro",
"transcript": "ENST00000678677.1",
"protein_id": "ENSP00000503253.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4512,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678677.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6153C>G",
"hgvs_p": "p.Pro2051Pro",
"transcript": "XM_011537783.2",
"protein_id": "XP_011536085.1",
"transcript_support_level": null,
"aa_start": 2051,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6153,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537783.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6150C>G",
"hgvs_p": "p.Pro2050Pro",
"transcript": "XM_011537784.2",
"protein_id": "XP_011536086.1",
"transcript_support_level": null,
"aa_start": 2050,
"aa_end": null,
"aa_length": 2083,
"cds_start": 6150,
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"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537784.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6108C>G",
"hgvs_p": "p.Pro2036Pro",
"transcript": "XM_011537785.2",
"protein_id": "XP_011536087.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6108,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537785.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6105C>G",
"hgvs_p": "p.Pro2035Pro",
"transcript": "XM_017018735.2",
"protein_id": "XP_016874224.1",
"transcript_support_level": null,
"aa_start": 2035,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6105,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018735.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6105C>G",
"hgvs_p": "p.Pro2035Pro",
"transcript": "XM_017018736.2",
"protein_id": "XP_016874225.1",
"transcript_support_level": null,
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"aa_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_017018736.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6063C>G",
"hgvs_p": "p.Pro2021Pro",
"transcript": "XM_006719206.3",
"protein_id": "XP_006719269.1",
"transcript_support_level": null,
"aa_start": 2021,
"aa_end": null,
"aa_length": 2054,
"cds_start": 6063,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719206.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6060C>G",
"hgvs_p": "p.Pro2020Pro",
"transcript": "XM_017018737.2",
"protein_id": "XP_016874226.1",
"transcript_support_level": null,
"aa_start": 2020,
"aa_end": null,
"aa_length": 2053,
"cds_start": 6060,
"cds_end": null,
"cds_length": 6162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018737.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5979C>G",
"hgvs_p": "p.Pro1993Pro",
"transcript": "XM_047428134.1",
"protein_id": "XP_047284090.1",
"transcript_support_level": null,
"aa_start": 1993,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5979,
"cds_end": null,
"cds_length": 6081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"gene_hgnc_id": 1985,
"hgvs_c": "n.*172C>G",
"hgvs_p": null,
"transcript": "ENST00000469414.1",
"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": "retained_intron",
"feature": "ENST00000469414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*153C>G",
"hgvs_p": null,
"transcript": "ENST00000544872.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000544872.1"
}
],
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07199999690055847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.462,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001206999.2",
"gene_symbol": "CIT",
"hgnc_id": 1985,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6108C>G",
"hgvs_p": "p.Pro2036Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}