← 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: 1-36472100-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36472100&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSF3R",
"hgnc_id": 2439,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_156039.3",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000297367",
"hgnc_id": null,
"hgvs_c": "n.225+27367T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000747486.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 8604,
"alphamissense_prediction": null,
"alphamissense_score": 0.0832,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0017352700233459473,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000760.4",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373106.6",
"protein_coding": true,
"protein_id": "NP_000751.1",
"strand": false,
"transcript": "NM_000760.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000373106.6",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000760.4",
"protein_coding": true,
"protein_id": "ENSP00000362198.2",
"strand": false,
"transcript": "ENST00000373106.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 863,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000373103.5",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362195.1",
"strand": false,
"transcript": "ENST00000373103.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 783,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000373104.5",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362196.1",
"strand": false,
"transcript": "ENST00000373104.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 863,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_156039.3",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_724781.1",
"strand": false,
"transcript": "NM_156039.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909337.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579396.1",
"strand": false,
"transcript": "ENST00000909337.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909339.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579398.1",
"strand": false,
"transcript": "ENST00000909339.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944959.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615018.1",
"strand": false,
"transcript": "ENST00000944959.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944961.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615020.1",
"strand": false,
"transcript": "ENST00000944961.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944962.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615021.1",
"strand": false,
"transcript": "ENST00000944962.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944963.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615022.1",
"strand": false,
"transcript": "ENST00000944963.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 835,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909338.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579397.1",
"strand": false,
"transcript": "ENST00000909338.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 835,
"aa_ref": "Q",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000944960.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.Gln345Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615019.1",
"strand": false,
"transcript": "ENST00000944960.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 802,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000464465.7",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435218.2",
"strand": false,
"transcript": "ENST00000464465.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 783,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_172313.3",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_758519.1",
"strand": false,
"transcript": "NM_172313.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 704,
"aa_ref": "Q",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2115,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000699090.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.641A>G",
"hgvs_p": "p.Gln214Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514168.1",
"strand": false,
"transcript": "ENST00000699090.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 863,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047446753.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302709.1",
"strand": false,
"transcript": "XM_047446753.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 862,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011540749.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539051.1",
"strand": false,
"transcript": "XM_011540749.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 835,
"aa_ref": "Q",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3406,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005270493.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Gln346Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270550.1",
"strand": false,
"transcript": "XM_005270493.1",
"transcript_support_level": null
},
{
"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": 2842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000464365.3",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "n.1895A>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": "ENST00000464365.3",
"transcript_support_level": 5
},
{
"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": 6074,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000480825.6",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "n.2420A>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": "ENST00000480825.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000487540.7",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "n.1037A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514169.2",
"strand": false,
"transcript": "ENST00000487540.7",
"transcript_support_level": 5
},
{
"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": 3754,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000699089.1",
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"hgvs_c": "n.2017A>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": "ENST00000699089.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000747486.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000297367",
"hgvs_c": "n.225+27367T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000747486.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3917974",
"effect": "missense_variant",
"frequency_reference_population": 0.005331562,
"gene_hgnc_id": 2439,
"gene_symbol": "CSF3R",
"gnomad_exomes_ac": 4939,
"gnomad_exomes_af": 0.00337933,
"gnomad_exomes_homalt": 124,
"gnomad_genomes_ac": 3665,
"gnomad_genomes_af": 0.0240716,
"gnomad_genomes_homalt": 114,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 238,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Autosomal recessive severe congenital neutropenia due to CSF3R deficiency|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.111,
"pos": 36472100,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.034,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_156039.3"
}
]
}