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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: 17-47673020-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47673020&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47673020,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002265.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "NM_002265.6",
"protein_id": "NP_002256.2",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 876,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290158.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002265.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "ENST00000290158.9",
"protein_id": "ENSP00000290158.3",
"transcript_support_level": 1,
"aa_start": 517,
"aa_end": null,
"aa_length": 876,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002265.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290158.9"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1700C>A",
"hgvs_p": "p.Pro567His",
"transcript": "ENST00000931903.1",
"protein_id": "ENSP00000601962.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 926,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931903.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "ENST00000583648.6",
"protein_id": "ENSP00000464042.2",
"transcript_support_level": 4,
"aa_start": 517,
"aa_end": null,
"aa_length": 876,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583648.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "ENST00000931899.1",
"protein_id": "ENSP00000601958.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 876,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931899.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "ENST00000931900.1",
"protein_id": "ENSP00000601959.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 876,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931900.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1529C>A",
"hgvs_p": "p.Pro510His",
"transcript": "ENST00000866807.1",
"protein_id": "ENSP00000536866.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 869,
"cds_start": 1529,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866807.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1526C>A",
"hgvs_p": "p.Pro509His",
"transcript": "ENST00000931905.1",
"protein_id": "ENSP00000601964.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 868,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931905.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His",
"transcript": "ENST00000866804.1",
"protein_id": "ENSP00000536863.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 852,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866804.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1460C>A",
"hgvs_p": "p.Pro487His",
"transcript": "ENST00000931902.1",
"protein_id": "ENSP00000601961.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 846,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931902.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1412C>A",
"hgvs_p": "p.Pro471His",
"transcript": "ENST00000946082.1",
"protein_id": "ENSP00000616141.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 830,
"cds_start": 1412,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946082.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1358C>A",
"hgvs_p": "p.Pro453His",
"transcript": "ENST00000931901.1",
"protein_id": "ENSP00000601960.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 812,
"cds_start": 1358,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931901.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1349C>A",
"hgvs_p": "p.Pro450His",
"transcript": "ENST00000866808.1",
"protein_id": "ENSP00000536867.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 809,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866808.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Pro416His",
"transcript": "ENST00000866806.1",
"protein_id": "ENSP00000536865.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 775,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866806.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1187C>A",
"hgvs_p": "p.Pro396His",
"transcript": "ENST00000931904.1",
"protein_id": "ENSP00000601963.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 755,
"cds_start": 1187,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931904.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1115C>A",
"hgvs_p": "p.Pro372His",
"transcript": "NM_001276453.2",
"protein_id": "NP_001263382.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 731,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276453.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1115C>A",
"hgvs_p": "p.Pro372His",
"transcript": "ENST00000535458.6",
"protein_id": "ENSP00000438253.2",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 731,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535458.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1115C>A",
"hgvs_p": "p.Pro372His",
"transcript": "ENST00000540627.5",
"protein_id": "ENSP00000438964.1",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 731,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540627.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1022C>A",
"hgvs_p": "p.Pro341His",
"transcript": "ENST00000866805.1",
"protein_id": "ENSP00000536864.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 700,
"cds_start": 1022,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866805.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.989C>A",
"hgvs_p": "p.Pro330His",
"transcript": "ENST00000582097.5",
"protein_id": "ENSP00000463066.1",
"transcript_support_level": 2,
"aa_start": 330,
"aa_end": null,
"aa_length": 689,
"cds_start": 989,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582097.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Pro175His",
"transcript": "ENST00000583013.1",
"protein_id": "ENSP00000463190.1",
"transcript_support_level": 3,
"aa_start": 175,
"aa_end": null,
"aa_length": 246,
"cds_start": 524,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"gene_symbol": "KPNB1",
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"biotype": "retained_intron",
"feature": "ENST00000677341.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "KPNB1",
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"hgvs_c": "n.-69C>A",
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"transcript": "ENST00000580019.1",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580019.1"
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],
"gene_symbol": "KPNB1",
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"dbsnp": "rs571522744",
"frequency_reference_population": 0.0000061991823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000616022,
"gnomad_genomes_af": 0.00000657333,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25672730803489685,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.1712,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.1,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002265.6",
"gene_symbol": "KPNB1",
"hgnc_id": 6400,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1550C>A",
"hgvs_p": "p.Pro517His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}