← Back to variant description
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: 10-45618159-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45618159&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45618159,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_174890.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "NM_174890.4",
"protein_id": "NP_777550.2",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344646.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174890.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000344646.10",
"protein_id": "ENSP00000339484.5",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174890.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344646.10"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Ala603Ser",
"transcript": "ENST00000374366.7",
"protein_id": "ENSP00000363486.3",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 653,
"cds_start": 1807,
"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": "ENST00000374366.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Ala683Ser",
"transcript": "ENST00000947494.1",
"protein_id": "ENSP00000617553.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947494.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "NM_001128324.2",
"protein_id": "NP_001121796.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128324.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000907319.1",
"protein_id": "ENSP00000577378.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907319.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000907320.1",
"protein_id": "ENSP00000577379.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907320.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000907323.1",
"protein_id": "ENSP00000577382.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907323.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000940116.1",
"protein_id": "ENSP00000610175.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940116.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000940117.1",
"protein_id": "ENSP00000610176.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 727,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940117.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "ENST00000907321.1",
"protein_id": "ENSP00000577380.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907321.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "ENST00000907322.1",
"protein_id": "ENSP00000577381.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907322.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "ENST00000940115.1",
"protein_id": "ENSP00000610174.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940115.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "ENST00000940118.1",
"protein_id": "ENSP00000610177.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940118.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "ENST00000940119.1",
"protein_id": "ENSP00000610178.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940119.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Ala603Ser",
"transcript": "NM_001282905.1",
"protein_id": "NP_001269834.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 653,
"cds_start": 1807,
"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": "NM_001282905.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Ala603Ser",
"transcript": "NM_001282906.1",
"protein_id": "NP_001269835.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 653,
"cds_start": 1807,
"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": "NM_001282906.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.874G>T",
"hgvs_p": "p.Ala292Ser",
"transcript": "ENST00000947495.1",
"protein_id": "ENSP00000617554.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 342,
"cds_start": 874,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947495.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Gly224Val",
"transcript": "ENST00000374371.6",
"protein_id": "ENSP00000363491.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 224,
"cds_start": 671,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374371.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2215G>T",
"hgvs_p": "p.Ala739Ser",
"transcript": "XM_047426008.1",
"protein_id": "XP_047281964.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 789,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426008.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2197G>T",
"hgvs_p": "p.Ala733Ser",
"transcript": "XM_047426009.1",
"protein_id": "XP_047281965.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 783,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426009.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.2071G>T",
"hgvs_p": "p.Ala691Ser",
"transcript": "XM_017016931.2",
"protein_id": "XP_016872420.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 741,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016931.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.2053G>T",
"hgvs_p": "p.Ala685Ser",
"transcript": "XM_011540366.3",
"protein_id": "XP_011538668.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 735,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540366.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Ala683Ser",
"transcript": "XM_017016933.3",
"protein_id": "XP_016872422.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016933.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Ala683Ser",
"transcript": "XM_047426010.1",
"protein_id": "XP_047281966.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426010.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Ala683Ser",
"transcript": "XM_047426011.1",
"protein_id": "XP_047281967.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426011.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Ala683Ser",
"transcript": "XM_047426012.1",
"protein_id": "XP_047281968.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426012.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Ala683Ser",
"transcript": "XM_047426017.1",
"protein_id": "XP_047281973.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 733,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426017.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "XM_017016939.3",
"protein_id": "XP_016872428.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016939.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1885G>T",
"hgvs_p": "p.Ala629Ser",
"transcript": "XM_047426014.1",
"protein_id": "XP_047281970.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 679,
"cds_start": 1885,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426014.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1825G>T",
"hgvs_p": "p.Ala609Ser",
"transcript": "XM_017016940.3",
"protein_id": "XP_016872429.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 659,
"cds_start": 1825,
"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": "XM_017016940.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.1750G>T",
"hgvs_p": "p.Ala584Ser",
"transcript": "XM_047426016.1",
"protein_id": "XP_047281972.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 634,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426016.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1513G>T",
"hgvs_p": "p.Ala505Ser",
"transcript": "XM_011540368.2",
"protein_id": "XP_011538670.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 555,
"cds_start": 1513,
"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": "XM_011540368.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.*69G>T",
"hgvs_p": null,
"transcript": "XM_047426018.1",
"protein_id": "XP_047281974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "n.1749G>T",
"hgvs_p": null,
"transcript": "ENST00000374370.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000374370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "n.250G>T",
"hgvs_p": null,
"transcript": "ENST00000484333.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000484333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.*69G>T",
"hgvs_p": null,
"transcript": "XM_017016935.2",
"protein_id": "XP_016872424.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 696,
"cds_start": null,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016935.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.*69G>T",
"hgvs_p": null,
"transcript": "XM_047426013.1",
"protein_id": "XP_047281969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": null,
"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": "XM_047426013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.*69G>T",
"hgvs_p": null,
"transcript": "XM_047426015.1",
"protein_id": "XP_047281971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "n.*50G>T",
"hgvs_p": null,
"transcript": "XR_001747259.2",
"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": "XR_001747259.2"
}
],
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"dbsnp": "rs199863028",
"frequency_reference_population": 0.00009112877,
"hom_count_reference_population": 1,
"allele_count_reference_population": 147,
"gnomad_exomes_af": 0.0000848841,
"gnomad_genomes_af": 0.000151032,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24527427554130554,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.145,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.437,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"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_174890.4",
"gene_symbol": "ZFAND4",
"hgnc_id": 23504,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser"
}
],
"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
}