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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: 12-9074723-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9074723&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9074723,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000014.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "NM_000014.6",
"protein_id": "NP_000005.3",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318602.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000014.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "ENST00000318602.12",
"protein_id": "ENSP00000323929.8",
"transcript_support_level": 1,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000014.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318602.12"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3731A>T",
"hgvs_p": "p.Glu1244Val",
"transcript": "ENST00000891833.1",
"protein_id": "ENSP00000561892.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1520,
"cds_start": 3731,
"cds_end": null,
"cds_length": 4563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891833.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "ENST00000956132.1",
"protein_id": "ENSP00000626191.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1501,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956132.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3623A>T",
"hgvs_p": "p.Glu1208Val",
"transcript": "ENST00000956134.1",
"protein_id": "ENSP00000626193.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3623,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956134.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "NM_001347423.2",
"protein_id": "NP_001334352.2",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347423.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "ENST00000891824.1",
"protein_id": "ENSP00000561883.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891824.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3590A>T",
"hgvs_p": "p.Glu1197Val",
"transcript": "ENST00000891825.1",
"protein_id": "ENSP00000561884.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3590,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891825.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3584A>T",
"hgvs_p": "p.Glu1195Val",
"transcript": "ENST00000891834.1",
"protein_id": "ENSP00000561893.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3584,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891834.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3584A>T",
"hgvs_p": "p.Glu1195Val",
"transcript": "ENST00000956135.1",
"protein_id": "ENSP00000626194.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3584,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956135.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3572A>T",
"hgvs_p": "p.Glu1191Val",
"transcript": "ENST00000891829.1",
"protein_id": "ENSP00000561888.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1467,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891829.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3554A>T",
"hgvs_p": "p.Glu1185Val",
"transcript": "ENST00000956133.1",
"protein_id": "ENSP00000626192.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1461,
"cds_start": 3554,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956133.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "ENST00000891830.1",
"protein_id": "ENSP00000561889.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891830.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3431A>T",
"hgvs_p": "p.Glu1144Val",
"transcript": "ENST00000956136.1",
"protein_id": "ENSP00000626195.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3431,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956136.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3416A>T",
"hgvs_p": "p.Glu1139Val",
"transcript": "ENST00000891826.1",
"protein_id": "ENSP00000561885.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3416,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891826.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "ENST00000891832.1",
"protein_id": "ENSP00000561891.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1402,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891832.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3365A>T",
"hgvs_p": "p.Glu1122Val",
"transcript": "ENST00000891831.1",
"protein_id": "ENSP00000561890.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3365,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891831.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3293A>T",
"hgvs_p": "p.Glu1098Val",
"transcript": "NM_001347424.2",
"protein_id": "NP_001334353.2",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3293,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347424.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3197A>T",
"hgvs_p": "p.Glu1066Val",
"transcript": "ENST00000891827.1",
"protein_id": "ENSP00000561886.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891827.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3143A>T",
"hgvs_p": "p.Glu1048Val",
"transcript": "NM_001347425.2",
"protein_id": "NP_001334354.2",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347425.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3026A>T",
"hgvs_p": "p.Glu1009Val",
"transcript": "ENST00000891828.1",
"protein_id": "ENSP00000561887.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891828.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2M",
"gene_hgnc_id": 7,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "XM_006719056.4",
"protein_id": "XP_006719119.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3593,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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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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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "A2M",
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"dbsnp": "rs1486214613",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
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"gnomad_exomes_ac": 5,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13232260942459106,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.1023,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.117,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000014.6",
"gene_symbol": "A2M",
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"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_017018684.2",
"gene_symbol": "KLRG1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}