← 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: 10-74134104-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74134104&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 74134104,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012095.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "NM_012095.6",
"protein_id": "NP_036227.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355264.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012095.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000355264.9",
"protein_id": "ENSP00000347408.4",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012095.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355264.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000372745.1",
"protein_id": "ENSP00000361831.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372745.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "NM_001320263.2",
"protein_id": "NP_001307192.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320263.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "NM_001320264.2",
"protein_id": "NP_001307193.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320264.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "NM_207012.4",
"protein_id": "NP_996895.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207012.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867215.1",
"protein_id": "ENSP00000537274.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867215.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867216.1",
"protein_id": "ENSP00000537275.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867216.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867217.1",
"protein_id": "ENSP00000537276.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867217.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867218.1",
"protein_id": "ENSP00000537277.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867218.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867219.1",
"protein_id": "ENSP00000537278.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867219.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867220.1",
"protein_id": "ENSP00000537279.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867220.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867221.1",
"protein_id": "ENSP00000537280.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867221.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867222.1",
"protein_id": "ENSP00000537281.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867222.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000867223.1",
"protein_id": "ENSP00000537282.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867223.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920397.1",
"protein_id": "ENSP00000590456.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920397.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920399.1",
"protein_id": "ENSP00000590458.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920399.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920401.1",
"protein_id": "ENSP00000590460.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920401.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920402.1",
"protein_id": "ENSP00000590461.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920402.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920403.1",
"protein_id": "ENSP00000590462.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920403.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920404.1",
"protein_id": "ENSP00000590463.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920404.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000920405.1",
"protein_id": "ENSP00000590464.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920405.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000964631.1",
"protein_id": "ENSP00000634690.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964631.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000964632.1",
"protein_id": "ENSP00000634691.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964632.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000964633.1",
"protein_id": "ENSP00000634692.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964633.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000964634.1",
"protein_id": "ENSP00000634693.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964634.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000964635.1",
"protein_id": "ENSP00000634694.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964635.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000964636.1",
"protein_id": "ENSP00000634695.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "NM_001320265.2",
"protein_id": "NP_001307194.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 364,
"cds_start": 344,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320265.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "XM_024447939.2",
"protein_id": "XP_024303707.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 418,
"cds_start": 506,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447939.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "XM_047425054.1",
"protein_id": "XP_047281010.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 361,
"cds_start": 506,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.445+2528G>A",
"hgvs_p": null,
"transcript": "ENST00000920398.1",
"protein_id": "ENSP00000590457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920398.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "c.445+2528G>A",
"hgvs_p": null,
"transcript": "ENST00000920400.1",
"protein_id": "ENSP00000590459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920400.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"hgvs_c": "n.583G>A",
"hgvs_p": null,
"transcript": "NR_135191.2",
"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": "NR_135191.2"
}
],
"gene_symbol": "AP3M1",
"gene_hgnc_id": 569,
"dbsnp": "rs753141719",
"frequency_reference_population": 0.000009913407,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102608,
"gnomad_genomes_af": 0.00000657462,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8271983861923218,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.5876,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.853,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012095.6",
"gene_symbol": "AP3M1",
"hgnc_id": 569,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln"
}
],
"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
}