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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: 11-60383265-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60383265&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 60383265,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021201.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "NM_021201.5",
"protein_id": "NP_067024.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 240,
"cds_start": 124,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300184.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021201.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000300184.8",
"protein_id": "ENSP00000300184.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 240,
"cds_start": 124,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021201.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300184.8"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "n.270C>A",
"hgvs_p": null,
"transcript": "ENST00000528808.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000528808.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "NM_206939.2",
"protein_id": "NP_996822.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 240,
"cds_start": 124,
"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": "NM_206939.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899568.1",
"protein_id": "ENSP00000569627.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 240,
"cds_start": 124,
"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": "ENST00000899568.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899569.1",
"protein_id": "ENSP00000569628.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 221,
"cds_start": 124,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899569.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899567.1",
"protein_id": "ENSP00000569626.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 206,
"cds_start": 124,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899567.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899571.1",
"protein_id": "ENSP00000569630.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 206,
"cds_start": 124,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899571.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "NM_206938.2",
"protein_id": "NP_996821.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 195,
"cds_start": 124,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206938.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "NM_206940.2",
"protein_id": "NP_996823.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 195,
"cds_start": 124,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206940.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000358246.5",
"protein_id": "ENSP00000350983.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 195,
"cds_start": 124,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358246.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000534016.5",
"protein_id": "ENSP00000434637.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 195,
"cds_start": 124,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534016.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899575.1",
"protein_id": "ENSP00000569634.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 195,
"cds_start": 124,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899575.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000971162.1",
"protein_id": "ENSP00000641221.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 176,
"cds_start": 124,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971162.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000530614.5",
"protein_id": "ENSP00000433861.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 168,
"cds_start": 124,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530614.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899565.1",
"protein_id": "ENSP00000569624.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 161,
"cds_start": 124,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899565.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899566.1",
"protein_id": "ENSP00000569625.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 161,
"cds_start": 124,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899566.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000530027.5",
"protein_id": "ENSP00000434819.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 160,
"cds_start": 124,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530027.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000971161.1",
"protein_id": "ENSP00000641220.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 152,
"cds_start": 124,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971161.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899570.1",
"protein_id": "ENSP00000569629.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 142,
"cds_start": 124,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899570.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000899574.1",
"protein_id": "ENSP00000569633.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 135,
"cds_start": 124,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899574.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A7",
"gene_hgnc_id": 13378,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr",
"transcript": "ENST00000971163.1",
"protein_id": "ENSP00000641222.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 135,
"cds_start": 124,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971163.1"
},
{
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{
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{
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{
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{
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},
{
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},
{
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"non_coding_transcript_exon_variant"
],
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"biotype": "retained_intron",
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},
{
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"intron_variant"
],
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"gene_symbol": "MS4A6E",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532756.1"
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],
"gene_symbol": "MS4A7",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10137683153152466,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0939,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.813,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021201.5",
"gene_symbol": "MS4A7",
"hgnc_id": 13378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Pro42Thr"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531787.5",
"gene_symbol": "MS4A14",
"hgnc_id": 30706,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-19+4601C>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532756.1",
"gene_symbol": "MS4A6E",
"hgnc_id": 14285,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*163-13297C>A",
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}
],
"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
}