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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: 4-71752606-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=71752606&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 71752606,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001204307.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "NM_000583.4",
"protein_id": "NP_000574.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273951.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000583.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000273951.13",
"protein_id": "ENSP00000273951.8",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000583.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273951.13"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "ENST00000504199.5",
"protein_id": "ENSP00000421725.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 493,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504199.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys",
"transcript": "NM_001204307.1",
"protein_id": "NP_001191236.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 493,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204307.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000513476.5",
"protein_id": "ENSP00000426683.1",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 476,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513476.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "NM_001204306.1",
"protein_id": "NP_001191235.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204306.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882421.1",
"protein_id": "ENSP00000552480.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882421.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882422.1",
"protein_id": "ENSP00000552481.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882422.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882423.1",
"protein_id": "ENSP00000552482.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882423.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882424.1",
"protein_id": "ENSP00000552483.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882424.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882425.1",
"protein_id": "ENSP00000552484.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882425.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882426.1",
"protein_id": "ENSP00000552485.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882426.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882427.1",
"protein_id": "ENSP00000552486.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882427.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882430.1",
"protein_id": "ENSP00000552489.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882430.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882431.1",
"protein_id": "ENSP00000552490.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882431.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882432.1",
"protein_id": "ENSP00000552491.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882432.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000941118.1",
"protein_id": "ENSP00000611177.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 474,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941118.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1298C>A",
"hgvs_p": "p.Thr433Lys",
"transcript": "ENST00000941117.1",
"protein_id": "ENSP00000611176.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 471,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941117.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1307C>A",
"hgvs_p": "p.Thr436Lys",
"transcript": "ENST00000882429.1",
"protein_id": "ENSP00000552488.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 468,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882429.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1172C>A",
"hgvs_p": "p.Thr391Lys",
"transcript": "ENST00000882428.1",
"protein_id": "ENSP00000552487.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 429,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "c.1262+1805C>A",
"hgvs_p": null,
"transcript": "NM_001440458.1",
"protein_id": "NP_001427387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "n.1191C>A",
"hgvs_p": null,
"transcript": "ENST00000503472.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000503472.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "GC",
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"hgvs_c": "n.*130C>A",
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"transcript": "ENST00000509740.5",
"protein_id": "ENSP00000422664.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000509740.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "n.*130C>A",
"hgvs_p": null,
"transcript": "ENST00000509740.5",
"protein_id": "ENSP00000422664.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000509740.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"hgvs_c": "n.68+1805C>A",
"hgvs_p": null,
"transcript": "ENST00000503364.5",
"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": "pseudogene",
"feature": "ENST00000503364.5"
}
],
"gene_symbol": "GC",
"gene_hgnc_id": 4187,
"dbsnp": "rs4588",
"frequency_reference_population": 0.2729813,
"hom_count_reference_population": 62145,
"allele_count_reference_population": 440214,
"gnomad_exomes_af": 0.27816,
"gnomad_genomes_af": 0.223259,
"gnomad_exomes_ac": 406250,
"gnomad_genomes_ac": 33964,
"gnomad_exomes_homalt": 57776,
"gnomad_genomes_homalt": 4369,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004927545785903931,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.0701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.459,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001204307.1",
"gene_symbol": "GC",
"hgnc_id": 4187,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1364C>A",
"hgvs_p": "p.Thr455Lys"
}
],
"clinvar_disease": "GC1/GC2 POLYMORPHISM,Levothyroxine response,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "GC1/GC2 POLYMORPHISM|Levothyroxine response|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}