← 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: X-150731555-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=150731555&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 150731555,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353990.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Pro276Leu",
"transcript": "NM_001306144.3",
"protein_id": "NP_001293073.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 673,
"cds_start": 827,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000445323.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306144.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Pro276Leu",
"transcript": "ENST00000445323.7",
"protein_id": "ENSP00000414178.2",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 673,
"cds_start": 827,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001306144.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445323.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000370390.7",
"protein_id": "ENSP00000359417.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 665,
"cds_start": 803,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370390.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000542156.5",
"protein_id": "ENSP00000445281.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 363,
"cds_start": 803,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542156.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "n.803C>T",
"hgvs_p": null,
"transcript": "ENST00000485376.5",
"protein_id": "ENSP00000434105.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000485376.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Pro285Leu",
"transcript": "NM_001353990.2",
"protein_id": "NP_001340919.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 682,
"cds_start": 854,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353990.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Pro285Leu",
"transcript": "ENST00000490316.7",
"protein_id": "ENSP00000436957.2",
"transcript_support_level": 3,
"aa_start": 285,
"aa_end": null,
"aa_length": 682,
"cds_start": 854,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490316.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "NM_003828.5",
"protein_id": "NP_003819.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 665,
"cds_start": 803,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003828.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000914470.1",
"protein_id": "ENSP00000584529.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 665,
"cds_start": 803,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914470.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000914472.1",
"protein_id": "ENSP00000584531.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 627,
"cds_start": 803,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914472.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Pro276Leu",
"transcript": "ENST00000941731.1",
"protein_id": "ENSP00000611790.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 614,
"cds_start": 827,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941731.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000914471.1",
"protein_id": "ENSP00000584530.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 606,
"cds_start": 803,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914471.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000914473.1",
"protein_id": "ENSP00000584532.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 603,
"cds_start": 803,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914473.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "NM_001353991.1",
"protein_id": "NP_001340920.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353991.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "NM_001353992.1",
"protein_id": "NP_001340921.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353992.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "NM_001353993.1",
"protein_id": "NP_001340922.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353993.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "NM_001353994.1",
"protein_id": "NP_001340923.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353994.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "NM_001353995.1",
"protein_id": "NP_001340924.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353995.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "NM_001353996.1",
"protein_id": "NP_001340925.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353996.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000914474.1",
"protein_id": "ENSP00000584533.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 568,
"cds_start": 803,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914474.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000914475.1",
"protein_id": "ENSP00000584534.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 544,
"cds_start": 803,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914475.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "NM_001306145.2",
"protein_id": "NP_001293074.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 363,
"cds_start": 803,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306145.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Pro302Leu",
"transcript": "XM_005274765.4",
"protein_id": "XP_005274822.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 699,
"cds_start": 905,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274765.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Pro285Leu",
"transcript": "XM_005274766.4",
"protein_id": "XP_005274823.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 682,
"cds_start": 854,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274766.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "XM_006724855.4",
"protein_id": "XP_006724918.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 665,
"cds_start": 803,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724855.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "XM_047442604.1",
"protein_id": "XP_047298560.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 606,
"cds_start": 803,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442604.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "XM_017029921.2",
"protein_id": "XP_016885410.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029921.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Pro174Leu",
"transcript": "XM_047442605.1",
"protein_id": "XP_047298561.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 571,
"cds_start": 521,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442605.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "XM_017029923.2",
"protein_id": "XP_016885412.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 552,
"cds_start": 464,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029923.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Pro302Leu",
"transcript": "XM_011531210.3",
"protein_id": "XP_011529512.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 397,
"cds_start": 905,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531210.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Pro285Leu",
"transcript": "XM_017029924.2",
"protein_id": "XP_016885413.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 380,
"cds_start": 854,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029924.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "n.497C>T",
"hgvs_p": null,
"transcript": "ENST00000488357.1",
"protein_id": "ENSP00000434514.1",
"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": "ENST00000488357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "n.938C>T",
"hgvs_p": null,
"transcript": "NR_148676.3",
"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_148676.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "n.962C>T",
"hgvs_p": null,
"transcript": "XR_007068204.1",
"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_007068204.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"hgvs_c": "c.*80C>T",
"hgvs_p": null,
"transcript": "ENST00000493995.6",
"protein_id": "ENSP00000431992.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493995.6"
}
],
"gene_symbol": "MTMR1",
"gene_hgnc_id": 7449,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9949458837509155,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.989,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.82,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.84,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001353990.2",
"gene_symbol": "MTMR1",
"hgnc_id": 7449,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Pro285Leu"
}
],
"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
}