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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: 17-46032108-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46032108&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46032108,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000432791.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "NM_015443.4",
"protein_id": "NP_056258.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3725,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "ENST00000432791.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "ENST00000432791.7",
"protein_id": "ENSP00000387393.3",
"transcript_support_level": 1,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3725,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": "NM_015443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "ENST00000262419.10",
"protein_id": "ENSP00000262419.6",
"transcript_support_level": 1,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3500,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "n.7246C>T",
"hgvs_p": null,
"transcript": "ENST00000572218.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "NM_001193466.2",
"protein_id": "NP_001180395.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "NM_001379198.1",
"protein_id": "NP_001366127.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3279,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "NM_001405854.1",
"protein_id": "NP_001392783.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3451,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "NM_001405855.1",
"protein_id": "NP_001392784.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu",
"transcript": "ENST00000572904.6",
"protein_id": "ENSP00000461484.1",
"transcript_support_level": 5,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3029,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3124,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "NM_001193465.2",
"protein_id": "NP_001180394.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "NM_001405856.1",
"protein_id": "NP_001392785.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "NM_001405857.1",
"protein_id": "NP_001392786.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3722,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "NM_001405858.1",
"protein_id": "NP_001392787.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3026,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.3026C>T",
"hgvs_p": "p.Pro1009Leu",
"transcript": "ENST00000574590.6",
"protein_id": "ENSP00000461812.2",
"transcript_support_level": 2,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3026,
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"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2927C>T",
"hgvs_p": "p.Pro976Leu",
"transcript": "NM_001405859.1",
"protein_id": "NP_001392788.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2927C>T",
"hgvs_p": "p.Pro976Leu",
"transcript": "NM_001405860.1",
"protein_id": "NP_001392789.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
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"cds_start": 2927,
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"cdna_start": 3623,
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"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2924C>T",
"hgvs_p": "p.Pro975Leu",
"transcript": "NM_001405861.1",
"protein_id": "NP_001392790.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"transcript": "NM_001405872.1",
"protein_id": "NP_001392801.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 3147,
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"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"transcript": "NM_001405873.1",
"protein_id": "NP_001392802.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
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"cdna_start": 3593,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"transcript": "NM_001405874.1",
"protein_id": "NP_001392803.1",
"transcript_support_level": null,
"aa_start": 966,
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"cds_start": 2897,
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"cdna_start": 3287,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2897C>T",
"hgvs_p": "p.Pro966Leu",
"transcript": "ENST00000648792.1",
"protein_id": "ENSP00000497628.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 3153,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "c.2840C>T",
"hgvs_p": "p.Pro947Leu",
"transcript": "NM_001405875.1",
"protein_id": "NP_001392804.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "n.*187C>T",
"hgvs_p": null,
"transcript": "ENST00000640092.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"hgvs_c": "n.*160C>T",
"hgvs_p": null,
"transcript": "ENST00000640751.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KANSL1",
"gene_hgnc_id": 24565,
"dbsnp": "rs7220988",
"frequency_reference_population": 0.38776734,
"hom_count_reference_population": 126362,
"allele_count_reference_population": 625758,
"gnomad_exomes_af": 0.392142,
"gnomad_genomes_af": 0.34567,
"gnomad_exomes_ac": 573248,
"gnomad_genomes_ac": 52510,
"gnomad_exomes_homalt": 116756,
"gnomad_genomes_homalt": 9606,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00005304510341375135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0511,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.159,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000432791.7",
"gene_symbol": "KANSL1",
"hgnc_id": 24565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3029C>T",
"hgvs_p": "p.Pro1010Leu"
}
],
"clinvar_disease": "Koolen-de Vries syndrome,MAPT-Related Spectrum Disorders,Syndromic intellectual disability,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "MAPT-Related Spectrum Disorders|Syndromic intellectual disability|not provided|Koolen-de Vries syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}