← Back to variant description
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: 12-7482678-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7482678&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CD163",
"hgnc_id": 1631,
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004244.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0454,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13805752992630005,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_203416.4",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000432237.3",
"protein_coding": true,
"protein_id": "NP_981961.2",
"strand": false,
"transcript": "NM_203416.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000432237.3",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203416.4",
"protein_coding": true,
"protein_id": "ENSP00000403885.2",
"strand": false,
"transcript": "ENST00000432237.3",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4268,
"cdna_start": 3415,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000359156.8",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352071.4",
"strand": false,
"transcript": "ENST00000359156.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1156,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3471,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004244.6",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004235.4",
"strand": false,
"transcript": "NM_004244.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "L",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 3397,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000396620.7",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3311T>G",
"hgvs_p": "p.Leu1104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379863.3",
"strand": false,
"transcript": "ENST00000396620.7",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "L",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 3317,
"cds_end": null,
"cds_length": 3384,
"cds_start": 3230,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894019.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3230T>G",
"hgvs_p": "p.Leu1077Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564078.1",
"strand": false,
"transcript": "ENST00000894019.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3375,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001370146.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357075.1",
"strand": false,
"transcript": "NM_001370146.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001370145.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357074.1",
"strand": false,
"transcript": "NM_001370145.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 3357,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894017.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564076.1",
"strand": false,
"transcript": "ENST00000894017.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 3346,
"cds_end": null,
"cds_length": 3366,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000960366.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630425.1",
"strand": false,
"transcript": "ENST00000960366.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 3363,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000960361.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630420.1",
"strand": false,
"transcript": "ENST00000960361.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "L",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": 3319,
"cds_end": null,
"cds_length": 3333,
"cds_start": 3179,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000960364.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3179T>G",
"hgvs_p": "p.Leu1060Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630423.1",
"strand": false,
"transcript": "ENST00000960364.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "L",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 3330,
"cds_start": 3176,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000541972.5",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3176T>G",
"hgvs_p": "p.Leu1059Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444071.1",
"strand": false,
"transcript": "ENST00000541972.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3270,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000960362.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630421.1",
"strand": false,
"transcript": "ENST00000960362.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "L",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000960368.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.2903T>G",
"hgvs_p": "p.Leu968Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630427.1",
"strand": false,
"transcript": "ENST00000960368.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "L",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2891,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000894018.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.2891T>G",
"hgvs_p": "p.Leu964Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564077.1",
"strand": false,
"transcript": "ENST00000894018.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 762,
"aa_ref": "L",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 2234,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000960367.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.2135T>G",
"hgvs_p": "p.Leu712Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630426.1",
"strand": false,
"transcript": "ENST00000960367.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 663,
"aa_ref": "L",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000960365.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.1838T>G",
"hgvs_p": "p.Leu613Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630424.1",
"strand": false,
"transcript": "ENST00000960365.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 136,
"aa_ref": "L",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 640,
"cdna_start": 250,
"cds_end": null,
"cds_length": 411,
"cds_start": 248,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000537626.5",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.248T>G",
"hgvs_p": "p.Leu83Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439226.1",
"strand": false,
"transcript": "ENST00000537626.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "L",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3486,
"cds_start": 3212,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047429895.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3212T>G",
"hgvs_p": "p.Leu1071Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285851.1",
"strand": false,
"transcript": "XM_047429895.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "L",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_024449278.2",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3311T>G",
"hgvs_p": "p.Leu1104Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305046.1",
"strand": false,
"transcript": "XM_024449278.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1081,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": null,
"cds_end": null,
"cds_length": 3246,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960363.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.3127+288T>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630422.1",
"strand": false,
"transcript": "ENST00000960363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 124,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 606,
"cdna_start": null,
"cds_end": null,
"cds_length": 375,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542280.5",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "c.247+288T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445438.1",
"strand": false,
"transcript": "ENST00000542280.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5312,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000537044.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "n.3298T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000537044.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_163255.1",
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"hgvs_c": "n.3163T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_163255.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1631,
"gene_symbol": "CD163",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.679,
"pos": 7482678,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.146,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004244.6"
}
]
}