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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: 18-35242561-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=35242561&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 35242561,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001135178.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "NM_001135178.3",
"protein_id": "NP_001128650.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330501.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135178.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000330501.12",
"protein_id": "ENSP00000331577.6",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135178.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330501.12"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000261333.10",
"protein_id": "ENSP00000261333.5",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 275,
"cds_start": 91,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261333.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "n.60-591T>C",
"hgvs_p": null,
"transcript": "ENST00000589420.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000589420.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000892487.1",
"protein_id": "ENSP00000562546.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892487.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000892488.1",
"protein_id": "ENSP00000562547.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892488.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000892489.1",
"protein_id": "ENSP00000562548.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892489.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000892491.1",
"protein_id": "ENSP00000562550.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892491.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000912773.1",
"protein_id": "ENSP00000582832.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912773.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000957143.1",
"protein_id": "ENSP00000627202.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957143.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000892490.1",
"protein_id": "ENSP00000562549.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 533,
"cds_start": 91,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892490.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "NM_032347.3",
"protein_id": "NP_115723.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 275,
"cds_start": 91,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032347.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000355632.8",
"protein_id": "ENSP00000347850.4",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 245,
"cds_start": 91,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355632.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000585800.1",
"protein_id": "ENSP00000466760.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 207,
"cds_start": 91,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585800.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000591206.5",
"protein_id": "ENSP00000466317.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 207,
"cds_start": 91,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591206.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.88T>C",
"hgvs_p": "p.Ser30Pro",
"transcript": "ENST00000588119.1",
"protein_id": "ENSP00000464808.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 199,
"cds_start": 88,
"cds_end": null,
"cds_length": 601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588119.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000592264.1",
"protein_id": "ENSP00000468413.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 188,
"cds_start": 91,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592264.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "ENST00000601719.1",
"protein_id": "ENSP00000472393.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 137,
"cds_start": 91,
"cds_end": null,
"cds_length": 416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601719.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "XM_006722558.3",
"protein_id": "XP_006722621.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 553,
"cds_start": 91,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722558.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "XM_011526229.3",
"protein_id": "XP_011524531.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 553,
"cds_start": 91,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526229.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "XM_011526230.3",
"protein_id": "XP_011524532.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 553,
"cds_start": 91,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526230.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF397",
"gene_hgnc_id": 18818,
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro",
"transcript": "XM_011526231.3",
"protein_id": "XP_011524533.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 534,
"cds_start": 91,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526231.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
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{
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{
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{
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"non_coding_transcript_exon_variant"
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"biotype": "retained_intron",
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{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ZNF397",
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"biotype": "pseudogene",
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],
"gene_symbol": "ZNF397",
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"dbsnp": "rs757872324",
"frequency_reference_population": 0.0000013680939,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10473605990409851,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.425,
"phylop100way_prediction": "Benign",
"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_001135178.3",
"gene_symbol": "ZNF397",
"hgnc_id": 18818,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.91T>C",
"hgvs_p": "p.Ser31Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}