← 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: 1-61914626-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=61914626&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 61914626,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350145.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "NM_001350145.3",
"protein_id": "NP_001337074.2",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1882,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642238.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350145.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "ENST00000642238.2",
"protein_id": "ENSP00000494277.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1882,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001350145.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642238.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.3646G>A",
"hgvs_p": null,
"transcript": "ENST00000459752.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459752.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.3646G>A",
"hgvs_p": null,
"transcript": "ENST00000484562.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484562.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.3646G>A",
"hgvs_p": null,
"transcript": "ENST00000635214.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000635214.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "NM_176877.5",
"protein_id": "NP_795352.3",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1801,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176877.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "ENST00000371158.6",
"protein_id": "ENSP00000360200.2",
"transcript_support_level": 5,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1801,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371158.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "ENST00000494842.2",
"protein_id": "ENSP00000489200.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 145,
"cds_start": 67,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494842.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540462.4",
"protein_id": "XP_011538764.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540462.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540463.3",
"protein_id": "XP_011538765.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540463.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540464.4",
"protein_id": "XP_011538766.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1921,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540464.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540465.4",
"protein_id": "XP_011538767.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1912,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540465.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540466.4",
"protein_id": "XP_011538768.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1907,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540466.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_024448614.2",
"protein_id": "XP_024304382.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1896,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448614.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_016999998.3",
"protein_id": "XP_016855487.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1879,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_016999998.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540467.4",
"protein_id": "XP_011538769.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1856,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540467.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_016999999.3",
"protein_id": "XP_016855488.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1854,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_016999999.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_047424283.1",
"protein_id": "XP_047280239.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1831,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424283.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_047424287.1",
"protein_id": "XP_047280243.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1826,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424287.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_047424301.1",
"protein_id": "XP_047280257.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1815,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424301.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_024448642.2",
"protein_id": "XP_024304410.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1798,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448642.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Gly875Ser",
"transcript": "XM_017000000.2",
"protein_id": "XP_016855489.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 1634,
"cds_start": 2623,
"cds_end": null,
"cds_length": 4905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000000.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540468.4",
"protein_id": "XP_011538770.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540468.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_047424321.1",
"protein_id": "XP_047280277.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1490,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424321.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_011540469.4",
"protein_id": "XP_011538771.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3532,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540469.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_005270347.3",
"protein_id": "XP_005270404.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270347.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser",
"transcript": "XM_006710278.5",
"protein_id": "XP_006710341.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710278.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Gly233Ser",
"transcript": "XM_017000001.2",
"protein_id": "XP_016855490.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 992,
"cds_start": 697,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000001.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.1909G>A",
"hgvs_p": null,
"transcript": "ENST00000484937.5",
"protein_id": "ENSP00000433669.1",
"transcript_support_level": 5,
"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": "ENST00000484937.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.*1500G>A",
"hgvs_p": null,
"transcript": "ENST00000635023.1",
"protein_id": "ENSP00000489335.1",
"transcript_support_level": 5,
"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": "ENST00000635023.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.3643G>A",
"hgvs_p": null,
"transcript": "XR_007061928.1",
"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_007061928.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "n.*1500G>A",
"hgvs_p": null,
"transcript": "ENST00000635023.1",
"protein_id": "ENSP00000489335.1",
"transcript_support_level": 5,
"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": "ENST00000635023.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"hgvs_c": "c.-21G>A",
"hgvs_p": null,
"transcript": "ENST00000490547.2",
"protein_id": "ENSP00000489475.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490547.2"
}
],
"gene_symbol": "PATJ",
"gene_hgnc_id": 28881,
"dbsnp": "rs1056513",
"frequency_reference_population": 0.6091843,
"hom_count_reference_population": 301583,
"allele_count_reference_population": 950492,
"gnomad_exomes_af": 0.621976,
"gnomad_genomes_af": 0.490444,
"gnomad_exomes_ac": 876073,
"gnomad_genomes_ac": 74419,
"gnomad_exomes_homalt": 279920,
"gnomad_genomes_homalt": 21663,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000007179983185778838,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": 0.0616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.402,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001350145.3",
"gene_symbol": "PATJ",
"hgnc_id": 28881,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3532G>A",
"hgvs_p": "p.Gly1178Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}