← 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: 16-29971508-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29971508&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29971508,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194280.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "NM_001083613.2",
"protein_id": "NP_001077082.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279396.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083613.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000279396.11",
"protein_id": "ENSP00000279396.6",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083613.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279396.11"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000414689.6",
"protein_id": "ENSP00000388485.2",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414689.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000566848.5",
"protein_id": "ENSP00000457492.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566848.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "NM_001369688.1",
"protein_id": "NP_001356617.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369688.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "NM_194280.4",
"protein_id": "NP_919256.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194280.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000561899.6",
"protein_id": "ENSP00000456960.1",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561899.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892936.1",
"protein_id": "ENSP00000562995.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892936.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892937.1",
"protein_id": "ENSP00000562996.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892937.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892938.1",
"protein_id": "ENSP00000562997.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892938.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892939.1",
"protein_id": "ENSP00000562998.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892939.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892941.1",
"protein_id": "ENSP00000563000.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892941.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892942.1",
"protein_id": "ENSP00000563001.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892942.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892943.1",
"protein_id": "ENSP00000563002.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892943.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892944.1",
"protein_id": "ENSP00000563003.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892944.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892945.1",
"protein_id": "ENSP00000563004.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892945.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892946.1",
"protein_id": "ENSP00000563005.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892946.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000892947.1",
"protein_id": "ENSP00000563006.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892947.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000933382.1",
"protein_id": "ENSP00000603441.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933382.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000933383.1",
"protein_id": "ENSP00000603442.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933383.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000958118.1",
"protein_id": "ENSP00000628177.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958118.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000958119.1",
"protein_id": "ENSP00000628178.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958119.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Pro228Gln",
"transcript": "NM_001369689.1",
"protein_id": "NP_001356618.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 239,
"cds_start": 683,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369689.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Pro228Gln",
"transcript": "ENST00000933381.1",
"protein_id": "ENSP00000603440.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 239,
"cds_start": 683,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933381.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Pro228Gln",
"transcript": "ENST00000933384.1",
"protein_id": "ENSP00000603443.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 239,
"cds_start": 683,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933384.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Pro225Gln",
"transcript": "ENST00000892940.1",
"protein_id": "ENSP00000562999.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 236,
"cds_start": 674,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892940.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "XM_005255123.2",
"protein_id": "XP_005255180.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255123.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "XM_047433622.1",
"protein_id": "XP_047289578.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 240,
"cds_start": 686,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433622.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Pro91Pro",
"transcript": "ENST00000569481.1",
"protein_id": "ENSP00000454443.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 98,
"cds_start": 273,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.586-1442C>A",
"hgvs_p": null,
"transcript": "NM_001369690.1",
"protein_id": "NP_001356619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.686C>A",
"hgvs_p": null,
"transcript": "ENST00000570255.6",
"protein_id": "ENSP00000459813.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000570255.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.774C>A",
"hgvs_p": null,
"transcript": "NR_161465.1",
"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": "NR_161465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.1751C>A",
"hgvs_p": null,
"transcript": "NR_161466.1",
"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": "NR_161466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.777C>A",
"hgvs_p": null,
"transcript": "XR_007064853.1",
"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_007064853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "n.877C>A",
"hgvs_p": null,
"transcript": "XR_007064854.1",
"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_007064854.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"hgvs_c": "c.*42C>A",
"hgvs_p": null,
"transcript": "ENST00000575829.6",
"protein_id": "ENSP00000459732.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": null,
"cds_end": null,
"cds_length": 641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575829.6"
}
],
"gene_symbol": "TMEM219",
"gene_hgnc_id": 25201,
"dbsnp": "rs377452886",
"frequency_reference_population": 6.841143e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84114e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26533418893814087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.337,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1661,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.426,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194280.4",
"gene_symbol": "TMEM219",
"hgnc_id": 25201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.686C>A",
"hgvs_p": "p.Pro229Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}