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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: 19-49908421-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49908421&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49908421,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012346.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "NM_016553.5",
"protein_id": "NP_057637.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352066.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016553.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000352066.8",
"protein_id": "ENSP00000305503.3",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016553.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352066.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000422090.2",
"protein_id": "ENSP00000407331.1",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422090.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000597029.6",
"protein_id": "ENSP00000473192.1",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597029.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Ala387Thr",
"transcript": "ENST00000597723.5",
"protein_id": "ENSP00000469283.1",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 446,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597723.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-227-4100G>A",
"hgvs_p": null,
"transcript": "ENST00000341114.7",
"protein_id": "ENSP00000342557.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341114.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "c.-285-4100G>A",
"hgvs_p": null,
"transcript": "ENST00000595948.5",
"protein_id": "ENSP00000472474.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595948.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL4I1",
"gene_hgnc_id": 19094,
"hgvs_c": "n.-227-4100G>A",
"hgvs_p": null,
"transcript": "ENST00000601717.5",
"protein_id": "ENSP00000469467.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000601717.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "NM_001193357.2",
"protein_id": "NP_001180286.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193357.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "NM_012346.5",
"protein_id": "NP_036478.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012346.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "NM_153718.4",
"protein_id": "NP_714940.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153718.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "NM_153719.4",
"protein_id": "NP_714941.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153719.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000596217.1",
"protein_id": "ENSP00000471191.1",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596217.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000596437.6",
"protein_id": "ENSP00000468842.2",
"transcript_support_level": 4,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596437.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000598301.2",
"protein_id": "ENSP00000515009.1",
"transcript_support_level": 4,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598301.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000599560.6",
"protein_id": "ENSP00000515013.1",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599560.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000599788.2",
"protein_id": "ENSP00000468884.2",
"transcript_support_level": 4,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599788.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000600583.6",
"protein_id": "ENSP00000515011.1",
"transcript_support_level": 4,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600583.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000600935.2",
"protein_id": "ENSP00000468839.2",
"transcript_support_level": 4,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600935.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000700473.1",
"protein_id": "ENSP00000515006.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700473.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000700474.1",
"protein_id": "ENSP00000515007.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700474.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP62",
"gene_hgnc_id": 8066,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"transcript": "ENST00000700475.1",
"protein_id": "ENSP00000515008.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 522,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"canonical": false,
"protein_coding": true,
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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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"feature": "ENST00000596011.1"
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{
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"intron_variant"
],
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"gene_symbol": "IL4I1",
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"transcript": "NR_047577.2",
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"biotype": "pseudogene",
"feature": "NR_047577.2"
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],
"gene_symbol": "NUP62",
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"dbsnp": "rs760388870",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84121e-7,
"gnomad_genomes_af": 0.00000657108,
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09657534956932068,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0699,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.96,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 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_012346.5",
"gene_symbol": "NUP62",
"hgnc_id": 8066,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_172374.3",
"gene_symbol": "IL4I1",
"hgnc_id": 19094,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-227-4100G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}