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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: 16-57741743-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57741743&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57741743,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005886.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "NM_005886.3",
"protein_id": "NP_005877.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 655,
"cds_start": 97,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379661.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005886.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000379661.8",
"protein_id": "ENSP00000368982.3",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 655,
"cds_start": 97,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005886.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379661.8"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874409.1",
"protein_id": "ENSP00000544468.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 675,
"cds_start": 97,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874409.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000912658.1",
"protein_id": "ENSP00000582717.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 675,
"cds_start": 97,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912658.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000912654.1",
"protein_id": "ENSP00000582713.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 662,
"cds_start": 97,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912654.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000955862.1",
"protein_id": "ENSP00000625921.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 661,
"cds_start": 97,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955862.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874406.1",
"protein_id": "ENSP00000544465.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 658,
"cds_start": 97,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874406.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874412.1",
"protein_id": "ENSP00000544471.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 658,
"cds_start": 97,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874412.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000955861.1",
"protein_id": "ENSP00000625920.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 658,
"cds_start": 97,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955861.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874405.1",
"protein_id": "ENSP00000544464.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 655,
"cds_start": 97,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874405.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874408.1",
"protein_id": "ENSP00000544467.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 655,
"cds_start": 97,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874408.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874411.1",
"protein_id": "ENSP00000544470.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 655,
"cds_start": 97,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874411.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000955864.1",
"protein_id": "ENSP00000625923.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 655,
"cds_start": 97,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955864.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.94G>T",
"hgvs_p": "p.Gly32Trp",
"transcript": "ENST00000874413.1",
"protein_id": "ENSP00000544472.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 654,
"cds_start": 94,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874413.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000912656.1",
"protein_id": "ENSP00000582715.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 654,
"cds_start": 97,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912656.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000912655.1",
"protein_id": "ENSP00000582714.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 653,
"cds_start": 97,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912655.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000912657.1",
"protein_id": "ENSP00000582716.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 651,
"cds_start": 97,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912657.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874410.1",
"protein_id": "ENSP00000544469.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 645,
"cds_start": 97,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874410.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000955863.1",
"protein_id": "ENSP00000625922.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 631,
"cds_start": 97,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955863.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000874407.1",
"protein_id": "ENSP00000544466.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 627,
"cds_start": 97,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874407.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp",
"transcript": "ENST00000562592.5",
"protein_id": "ENSP00000455350.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 209,
"cds_start": 97,
"cds_end": null,
"cds_length": 632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562592.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Gly37Trp",
"transcript": "ENST00000566726.5",
"protein_id": "ENSP00000455270.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 207,
"cds_start": 109,
"cds_end": null,
"cds_length": 625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566726.5"
},
{
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],
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"exon_count": 5,
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"gene_symbol": "KATNB1",
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"transcript": "ENST00000569627.1",
"protein_id": "ENSP00000457046.1",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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"missense_variant"
],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "KATNB1",
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"hgvs_c": "c.97G>T",
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"transcript": "ENST00000566785.5",
"protein_id": "ENSP00000457347.1",
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"biotype": "protein_coding",
"feature": "ENST00000566785.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "KATNB1",
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"hgvs_c": "n.149G>T",
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"transcript": "ENST00000563127.1",
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"transcript_support_level": 2,
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"aa_length": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563127.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"hgvs_c": "n.616G>T",
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"transcript": "ENST00000566611.5",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566611.5"
}
],
"gene_symbol": "KATNB1",
"gene_hgnc_id": 6217,
"dbsnp": "rs730880259",
"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": 0.9364038109779358,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.89,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8557,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.045,
"phylop100way_prediction": "Pathogenic",
"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_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005886.3",
"gene_symbol": "KATNB1",
"hgnc_id": 6217,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.97G>T",
"hgvs_p": "p.Gly33Trp"
}
],
"clinvar_disease": "Lissencephaly 6 with microcephaly",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Lissencephaly 6 with microcephaly",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}