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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: 10-45626349-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45626349&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45626349,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000344646.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1474A>G",
"hgvs_p": "p.Arg492Gly",
"transcript": "NM_174890.4",
"protein_id": "NP_777550.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 727,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": "ENST00000344646.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1474A>G",
"hgvs_p": "p.Arg492Gly",
"transcript": "ENST00000344646.10",
"protein_id": "ENSP00000339484.5",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 727,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": "NM_174890.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "ENST00000374366.7",
"protein_id": "ENSP00000363486.3",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 653,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1474A>G",
"hgvs_p": "p.Arg492Gly",
"transcript": "NM_001128324.2",
"protein_id": "NP_001121796.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 727,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "NM_001282905.1",
"protein_id": "NP_001269834.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 653,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "NM_001282906.1",
"protein_id": "NP_001269835.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 653,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Arg554Gly",
"transcript": "XM_047426008.1",
"protein_id": "XP_047281964.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 789,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Arg548Gly",
"transcript": "XM_047426009.1",
"protein_id": "XP_047281965.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 783,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1516A>G",
"hgvs_p": "p.Arg506Gly",
"transcript": "XM_017016931.2",
"protein_id": "XP_016872420.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 741,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1498A>G",
"hgvs_p": "p.Arg500Gly",
"transcript": "XM_011540366.3",
"protein_id": "XP_011538668.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 735,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "XM_017016933.3",
"protein_id": "XP_016872422.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 733,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "XM_047426010.1",
"protein_id": "XP_047281966.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 733,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "XM_047426011.1",
"protein_id": "XP_047281967.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 733,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "XM_047426012.1",
"protein_id": "XP_047281968.1",
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"aa_start": 498,
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"cds_start": 1492,
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"cdna_start": 1984,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "XM_047426017.1",
"protein_id": "XP_047281973.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 733,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Arg554Gly",
"transcript": "XM_017016935.2",
"protein_id": "XP_016872424.2",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
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"cds_start": 1660,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Arg548Gly",
"transcript": "XM_047426013.1",
"protein_id": "XP_047281969.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 690,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2352,
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"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_017016939.3",
"protein_id": "XP_016872428.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 679,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047426014.1",
"protein_id": "XP_047281970.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": 1948,
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"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Arg424Gly",
"transcript": "XM_017016940.3",
"protein_id": "XP_016872429.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 659,
"cds_start": 1270,
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"cdna_start": 1500,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1474A>G",
"hgvs_p": "p.Arg492Gly",
"transcript": "XM_047426015.1",
"protein_id": "XP_047281971.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 634,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "XM_047426016.1",
"protein_id": "XP_047281972.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 634,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.958A>G",
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"aa_start": 320,
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"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ZFAND4",
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"transcript": "ENST00000374370.1",
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"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ZFAND4",
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"hgvs_c": "n.2370A>G",
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"transcript": "XR_001747259.2",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "ZFAND4",
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"hgvs_c": "c.570-8089A>G",
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"transcript": "ENST00000374371.6",
"protein_id": "ENSP00000363491.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
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"cdna_end": null,
"cdna_length": 2283,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.718-8089A>G",
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"transcript": "XM_047426018.1",
"protein_id": "XP_047281974.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": -4,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"dbsnp": "rs202064320",
"frequency_reference_population": 0.000016726428,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000143651,
"gnomad_genomes_af": 0.0000393871,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024944603443145752,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.1157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.456,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000344646.10",
"gene_symbol": "ZFAND4",
"hgnc_id": 23504,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1474A>G",
"hgvs_p": "p.Arg492Gly"
}
],
"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
}