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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: 11-60301026-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60301026&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 60301026,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_148975.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.356T>C",
"hgvs_p": "p.Ile119Thr",
"transcript": "NM_148975.3",
"protein_id": "NP_683876.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 356,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337908.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148975.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.356T>C",
"hgvs_p": "p.Ile119Thr",
"transcript": "ENST00000337908.5",
"protein_id": "ENSP00000338648.4",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 239,
"cds_start": 356,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_148975.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337908.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000649552.2",
"protein_id": "ENSP00000497952.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 293,
"cds_start": 374,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649552.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000679553.1",
"protein_id": "ENSP00000505712.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 245,
"cds_start": 374,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679553.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000681288.1",
"protein_id": "ENSP00000505714.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 245,
"cds_start": 374,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681288.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000680301.1",
"protein_id": "ENSP00000506147.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 240,
"cds_start": 374,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680301.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.299T>C",
"hgvs_p": "p.Ile100Thr",
"transcript": "NM_024021.4",
"protein_id": "NP_076926.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 220,
"cds_start": 299,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024021.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.299T>C",
"hgvs_p": "p.Ile100Thr",
"transcript": "ENST00000680537.1",
"protein_id": "ENSP00000506179.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 220,
"cds_start": 299,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680537.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.299T>C",
"hgvs_p": "p.Ile100Thr",
"transcript": "ENST00000680757.1",
"protein_id": "ENSP00000505293.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 220,
"cds_start": 299,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680757.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Ile76Thr",
"transcript": "ENST00000895188.1",
"protein_id": "ENSP00000565248.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 196,
"cds_start": 227,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895188.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.374T>C",
"hgvs_p": "p.Ile125Thr",
"transcript": "ENST00000681406.1",
"protein_id": "ENSP00000505926.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 192,
"cds_start": 374,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681406.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.356T>C",
"hgvs_p": "p.Ile119Thr",
"transcript": "NM_001243266.2",
"protein_id": "NP_001230195.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 186,
"cds_start": 356,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243266.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.356T>C",
"hgvs_p": "p.Ile119Thr",
"transcript": "ENST00000532114.6",
"protein_id": "ENSP00000434506.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 186,
"cds_start": 356,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532114.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.299T>C",
"hgvs_p": "p.Ile100Thr",
"transcript": "ENST00000680935.1",
"protein_id": "ENSP00000505050.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 167,
"cds_start": 299,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680935.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Ile44Thr",
"transcript": "ENST00000679385.1",
"protein_id": "ENSP00000506313.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 164,
"cds_start": 131,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679385.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Ile44Thr",
"transcript": "ENST00000679988.1",
"protein_id": "ENSP00000506432.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 164,
"cds_start": 131,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679988.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Ile76Thr",
"transcript": "ENST00000970117.1",
"protein_id": "ENSP00000640176.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 143,
"cds_start": 227,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970117.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.330+3701T>C",
"hgvs_p": null,
"transcript": "ENST00000970116.1",
"protein_id": "ENSP00000640175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*295T>C",
"hgvs_p": null,
"transcript": "ENST00000343968.8",
"protein_id": "ENSP00000340356.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000343968.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*447T>C",
"hgvs_p": null,
"transcript": "ENST00000527056.5",
"protein_id": "ENSP00000435309.1",
"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": "ENST00000527056.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*433T>C",
"hgvs_p": null,
"transcript": "ENST00000529950.2",
"protein_id": "ENSP00000434983.2",
"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": "ENST00000529950.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.472T>C",
"hgvs_p": null,
"transcript": "ENST00000529991.2",
"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": "ENST00000529991.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.85T>C",
"hgvs_p": null,
"transcript": "ENST00000680560.1",
"protein_id": "ENSP00000505056.1",
"transcript_support_level": null,
"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": "ENST00000680560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*295T>C",
"hgvs_p": null,
"transcript": "ENST00000343968.8",
"protein_id": "ENSP00000340356.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000343968.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*447T>C",
"hgvs_p": null,
"transcript": "ENST00000527056.5",
"protein_id": "ENSP00000435309.1",
"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": "ENST00000527056.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*433T>C",
"hgvs_p": null,
"transcript": "ENST00000529950.2",
"protein_id": "ENSP00000434983.2",
"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": "ENST00000529950.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.*269+3701T>C",
"hgvs_p": null,
"transcript": "ENST00000681157.1",
"protein_id": "ENSP00000505040.1",
"transcript_support_level": null,
"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": "ENST00000681157.1"
}
],
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"dbsnp": "rs1221003783",
"frequency_reference_population": 0.000006861894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000482464,
"gnomad_genomes_af": 0.0000262864,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5045555233955383,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.2896,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.886,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_148975.3",
"gene_symbol": "MS4A4A",
"hgnc_id": 13371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.356T>C",
"hgvs_p": "p.Ile119Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}