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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: 19-44476569-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44476569&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44476569,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013256.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "NM_001278509.3",
"protein_id": "NP_001265438.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592529.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278509.3"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000592529.6",
"protein_id": "ENSP00000468021.1",
"transcript_support_level": 2,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278509.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592529.6"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1912T>A",
"hgvs_p": "p.Cys638Ser",
"transcript": "ENST00000221327.9",
"protein_id": "ENSP00000221327.3",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 692,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221327.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "n.*1719T>A",
"hgvs_p": null,
"transcript": "ENST00000590088.5",
"protein_id": "ENSP00000468523.1",
"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": "ENST00000590088.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "n.*1923T>A",
"hgvs_p": null,
"transcript": "ENST00000592095.5",
"protein_id": "ENSP00000466516.1",
"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": "ENST00000592095.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "n.*1719T>A",
"hgvs_p": null,
"transcript": "ENST00000590088.5",
"protein_id": "ENSP00000468523.1",
"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": "ENST00000590088.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "n.*1923T>A",
"hgvs_p": null,
"transcript": "ENST00000592095.5",
"protein_id": "ENSP00000466516.1",
"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": "ENST00000592095.5"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1912T>A",
"hgvs_p": "p.Cys638Ser",
"transcript": "NM_013256.7",
"protein_id": "NP_037388.3",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 692,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013256.7"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1909T>A",
"hgvs_p": "p.Cys637Ser",
"transcript": "NM_001288759.4",
"protein_id": "NP_001275688.2",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 691,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288759.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1837T>A",
"hgvs_p": "p.Cys613Ser",
"transcript": "NM_001278508.4",
"protein_id": "NP_001265437.2",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 667,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278508.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1837T>A",
"hgvs_p": "p.Cys613Ser",
"transcript": "ENST00000391956.8",
"protein_id": "ENSP00000375818.3",
"transcript_support_level": 2,
"aa_start": 613,
"aa_end": null,
"aa_length": 667,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391956.8"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "NM_001291633.2",
"protein_id": "NP_001278562.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291633.2"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000911258.1",
"protein_id": "ENSP00000581317.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911258.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000911260.1",
"protein_id": "ENSP00000581319.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911260.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000940757.1",
"protein_id": "ENSP00000610816.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940757.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000940758.1",
"protein_id": "ENSP00000610817.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940758.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000940759.1",
"protein_id": "ENSP00000610818.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940759.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1831T>A",
"hgvs_p": "p.Cys611Ser",
"transcript": "ENST00000940760.1",
"protein_id": "ENSP00000610819.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 665,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940760.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1819T>A",
"hgvs_p": "p.Cys607Ser",
"transcript": "ENST00000911257.1",
"protein_id": "ENSP00000581316.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 661,
"cds_start": 1819,
"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": "ENST00000911257.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1819T>A",
"hgvs_p": "p.Cys607Ser",
"transcript": "ENST00000911259.1",
"protein_id": "ENSP00000581318.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 661,
"cds_start": 1819,
"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": "ENST00000911259.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1756T>A",
"hgvs_p": "p.Cys586Ser",
"transcript": "ENST00000911254.1",
"protein_id": "ENSP00000581313.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 640,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911254.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1756T>A",
"hgvs_p": "p.Cys586Ser",
"transcript": "ENST00000911255.1",
"protein_id": "ENSP00000581314.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 640,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911255.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.1756T>A",
"hgvs_p": "p.Cys586Ser",
"transcript": "ENST00000911256.1",
"protein_id": "ENSP00000581315.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 640,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911256.1"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.883T>A",
"hgvs_p": "p.Cys295Ser",
"transcript": "NM_001288760.3",
"protein_id": "NP_001275689.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288760.3"
},
{
"aa_ref": "C",
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"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.883T>A",
"hgvs_p": "p.Cys295Ser",
"transcript": "NM_001288761.3",
"protein_id": "NP_001275690.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288761.3"
},
{
"aa_ref": "C",
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"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": "ZNF180",
"gene_hgnc_id": 12970,
"hgvs_c": "c.883T>A",
"hgvs_p": "p.Cys295Ser",
"transcript": "NM_001288762.3",
"protein_id": "NP_001275691.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 349,
"cds_start": 883,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288762.3"
}
],
"gene_symbol": "ZNF180",
"gene_hgnc_id": 12970,
"dbsnp": "rs1396643584",
"frequency_reference_population": 0.0000055761116,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478852,
"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8413269519805908,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.842,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.527,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013256.7",
"gene_symbol": "ZNF180",
"hgnc_id": 12970,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1912T>A",
"hgvs_p": "p.Cys638Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}