← 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: 18-7888339-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=7888339&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 7888339,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001105244.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "NM_001105244.2",
"protein_id": "NP_001098714.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1465,
"cds_start": 430,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000580170.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105244.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "ENST00000580170.6",
"protein_id": "ENSP00000463325.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1465,
"cds_start": 430,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105244.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580170.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "ENST00000332175.12",
"protein_id": "ENSP00000331418.8",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1452,
"cds_start": 430,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332175.12"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "NM_002845.4",
"protein_id": "NP_002836.3",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1452,
"cds_start": 430,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002845.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Glu82Gln",
"transcript": "ENST00000400053.8",
"protein_id": "ENSP00000382927.4",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 1390,
"cds_start": 244,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400053.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025894.2",
"protein_id": "XP_016881383.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1532,
"cds_start": 505,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025894.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025895.2",
"protein_id": "XP_016881384.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1528,
"cds_start": 505,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025895.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025896.2",
"protein_id": "XP_016881385.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1519,
"cds_start": 505,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025896.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025897.2",
"protein_id": "XP_016881386.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1515,
"cds_start": 505,
"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_017025897.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025898.2",
"protein_id": "XP_016881387.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1511,
"cds_start": 505,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025898.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_011525708.3",
"protein_id": "XP_011524010.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1507,
"cds_start": 430,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525708.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025899.2",
"protein_id": "XP_016881388.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1507,
"cds_start": 505,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025899.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025900.2",
"protein_id": "XP_016881389.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1502,
"cds_start": 505,
"cds_end": null,
"cds_length": 4509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025900.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025901.2",
"protein_id": "XP_016881390.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1494,
"cds_start": 505,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025901.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025902.2",
"protein_id": "XP_016881391.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1490,
"cds_start": 505,
"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_017025902.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025903.2",
"protein_id": "XP_016881392.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1486,
"cds_start": 505,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025903.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_011525712.3",
"protein_id": "XP_011524014.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1482,
"cds_start": 430,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525712.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_047437714.1",
"protein_id": "XP_047293670.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1478,
"cds_start": 430,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437714.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025904.2",
"protein_id": "XP_016881393.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1477,
"cds_start": 505,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025904.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_047437715.1",
"protein_id": "XP_047293671.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1477,
"cds_start": 430,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437715.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_047437716.1",
"protein_id": "XP_047293672.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1469,
"cds_start": 430,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437716.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_047437717.1",
"protein_id": "XP_047293673.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1461,
"cds_start": 430,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437717.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_047437721.1",
"protein_id": "XP_047293677.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 895,
"cds_start": 505,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437721.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025910.2",
"protein_id": "XP_016881399.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 865,
"cds_start": 505,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025910.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_017025911.2",
"protein_id": "XP_016881400.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 840,
"cds_start": 430,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025911.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_047437722.1",
"protein_id": "XP_047293678.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 840,
"cds_start": 505,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437722.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "XM_017025912.2",
"protein_id": "XP_016881401.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 823,
"cds_start": 505,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025912.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_047437723.1",
"protein_id": "XP_047293679.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 815,
"cds_start": 430,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437723.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln",
"transcript": "XM_047437724.1",
"protein_id": "XP_047293680.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 778,
"cds_start": 430,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.-3129G>C",
"hgvs_p": null,
"transcript": "ENST00000400060.8",
"protein_id": "ENSP00000382933.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400060.8"
}
],
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"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": 0.8342875242233276,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.436,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"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": 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_001105244.2",
"gene_symbol": "PTPRM",
"hgnc_id": 9675,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Glu144Gln"
}
],
"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
}