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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: 19-57640980-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57640980&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57640980,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001265597.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.533G>T",
"hgvs_p": "p.Ser178Ile",
"transcript": "NM_006385.5",
"protein_id": "NP_006376.2",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 577,
"cds_start": 533,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240731.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006385.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.533G>T",
"hgvs_p": "p.Ser178Ile",
"transcript": "ENST00000240731.5",
"protein_id": "ENSP00000240731.4",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 577,
"cds_start": 533,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006385.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240731.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Ser168Ile",
"transcript": "ENST00000407202.6",
"protein_id": "ENSP00000384436.2",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 567,
"cds_start": 503,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407202.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.494G>T",
"hgvs_p": "p.Ser165Ile",
"transcript": "ENST00000347302.7",
"protein_id": "ENSP00000339562.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 564,
"cds_start": 494,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347302.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.*588G>T",
"hgvs_p": null,
"transcript": "ENST00000535785.1",
"protein_id": "ENSP00000442740.1",
"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": "ENST00000535785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.*692G>T",
"hgvs_p": null,
"transcript": "ENST00000540556.5",
"protein_id": "ENSP00000440793.1",
"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": "ENST00000540556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.*588G>T",
"hgvs_p": null,
"transcript": "ENST00000535785.1",
"protein_id": "ENSP00000442740.1",
"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": "ENST00000535785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.*692G>T",
"hgvs_p": null,
"transcript": "ENST00000540556.5",
"protein_id": "ENSP00000440793.1",
"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": "ENST00000540556.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Ser291Ile",
"transcript": "ENST00000859801.1",
"protein_id": "ENSP00000529860.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 690,
"cds_start": 872,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859801.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.779G>T",
"hgvs_p": "p.Ser260Ile",
"transcript": "ENST00000948854.1",
"protein_id": "ENSP00000618913.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 659,
"cds_start": 779,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948854.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.716G>T",
"hgvs_p": "p.Ser239Ile",
"transcript": "ENST00000948852.1",
"protein_id": "ENSP00000618911.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 638,
"cds_start": 716,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948852.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.689G>T",
"hgvs_p": "p.Ser230Ile",
"transcript": "NM_001265597.3",
"protein_id": "NP_001252526.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 629,
"cds_start": 689,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265597.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.689G>T",
"hgvs_p": "p.Ser230Ile",
"transcript": "ENST00000299871.9",
"protein_id": "ENSP00000299871.5",
"transcript_support_level": 3,
"aa_start": 230,
"aa_end": null,
"aa_length": 629,
"cds_start": 689,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299871.9"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.683G>T",
"hgvs_p": "p.Ser228Ile",
"transcript": "NM_001322306.2",
"protein_id": "NP_001309235.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 627,
"cds_start": 683,
"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": "NM_001322306.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.683G>T",
"hgvs_p": "p.Ser228Ile",
"transcript": "ENST00000859800.1",
"protein_id": "ENSP00000529859.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 627,
"cds_start": 683,
"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": "ENST00000859800.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.650G>T",
"hgvs_p": "p.Ser217Ile",
"transcript": "NM_001265598.3",
"protein_id": "NP_001252527.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 616,
"cds_start": 650,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265598.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.650G>T",
"hgvs_p": "p.Ser217Ile",
"transcript": "ENST00000541801.5",
"protein_id": "ENSP00000442601.2",
"transcript_support_level": 3,
"aa_start": 217,
"aa_end": null,
"aa_length": 616,
"cds_start": 650,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541801.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.644G>T",
"hgvs_p": "p.Ser215Ile",
"transcript": "ENST00000948853.1",
"protein_id": "ENSP00000618912.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 614,
"cds_start": 644,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948853.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.527G>T",
"hgvs_p": "p.Ser176Ile",
"transcript": "ENST00000948851.1",
"protein_id": "ENSP00000618910.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 575,
"cds_start": 527,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948851.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.494G>T",
"hgvs_p": "p.Ser165Ile",
"transcript": "NM_198855.4",
"protein_id": "NP_942152.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 564,
"cds_start": 494,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198855.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Ser156Ile",
"transcript": "NM_001265599.3",
"protein_id": "NP_001252528.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 555,
"cds_start": 467,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265599.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.467G>T",
"hgvs_p": "p.Ser156Ile",
"transcript": "ENST00000254182.11",
"protein_id": "ENSP00000254182.7",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 555,
"cds_start": 467,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254182.11"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.311G>T",
"hgvs_p": "p.Ser104Ile",
"transcript": "NM_001265600.3",
"protein_id": "NP_001252529.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 503,
"cds_start": 311,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265600.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "c.311G>T",
"hgvs_p": "p.Ser104Ile",
"transcript": "ENST00000391703.3",
"protein_id": "ENSP00000375584.3",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 503,
"cds_start": 311,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391703.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.988G>T",
"hgvs_p": null,
"transcript": "NR_049752.3",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_049752.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.905G>T",
"hgvs_p": null,
"transcript": "NR_049753.3",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_049753.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ZNF211",
"gene_hgnc_id": 13003,
"hgvs_c": "n.832G>T",
"hgvs_p": null,
"transcript": "NR_049754.3",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_049754.3"
}
],
"gene_symbol": "ZNF211",
"gene_hgnc_id": 13003,
"dbsnp": "rs764612532",
"frequency_reference_population": 0.000001858614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": 0.00000656866,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1137477457523346,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.1448,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.342,
"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_001265597.3",
"gene_symbol": "ZNF211",
"hgnc_id": 13003,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.689G>T",
"hgvs_p": "p.Ser230Ile"
}
],
"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
}