← 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: 16-57656598-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57656598&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57656598,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000562631.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_201525.4",
"protein_id": "NP_958933.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "ENST00000562631.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000562631.7",
"protein_id": "ENSP00000455351.2",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": "NM_201525.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000567835.5",
"protein_id": "ENSP00000456794.1",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000388813.9",
"protein_id": "ENSP00000373465.5",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000540164.6",
"protein_id": "ENSP00000444911.2",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000568908.5",
"protein_id": "ENSP00000457456.1",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001145771.3",
"protein_id": "NP_001139243.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370428.1",
"protein_id": "NP_001357357.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370429.1",
"protein_id": "NP_001357358.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370430.1",
"protein_id": "NP_001357359.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370431.1",
"protein_id": "NP_001357360.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370432.1",
"protein_id": "NP_001357361.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_005682.7",
"protein_id": "NP_005673.3",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000565976.6",
"protein_id": "ENSP00000454933.2",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000568909.5",
"protein_id": "ENSP00000455215.1",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000673126.2",
"protein_id": "ENSP00000500185.2",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "NM_001145773.3",
"protein_id": "NP_001139245.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "NM_001370433.1",
"protein_id": "NP_001357362.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Thr382Ile",
"transcript": "NM_001370434.1",
"protein_id": "NP_001357363.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 692,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "ENST00000456916.5",
"protein_id": "ENSP00000398034.2",
"transcript_support_level": 2,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001145770.3",
"protein_id": "NP_001139242.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001145772.3",
"protein_id": "NP_001139244.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001145774.3",
"protein_id": "NP_001139246.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370435.1",
"protein_id": "NP_001357364.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370436.1",
"protein_id": "NP_001357365.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370437.1",
"protein_id": "NP_001357366.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370438.1",
"protein_id": "NP_001357367.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370439.1",
"protein_id": "NP_001357368.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_001370440.1",
"protein_id": "NP_001357369.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "NM_201524.4",
"protein_id": "NP_958932.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000562558.6",
"protein_id": "ENSP00000456620.1",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Thr382Ile",
"transcript": "NM_001370441.1",
"protein_id": "NP_001357370.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 686,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "ENST00000672974.1",
"protein_id": "ENSP00000500676.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 669,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2012,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "NM_001370442.1",
"protein_id": "NP_001357371.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 635,
"cds_start": 992,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "NM_001290142.2",
"protein_id": "NP_001277071.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 523,
"cds_start": 638,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001290143.2",
"protein_id": "NP_001277072.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 518,
"cds_start": 623,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001290144.2",
"protein_id": "NP_001277073.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 512,
"cds_start": 623,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001370451.1",
"protein_id": "NP_001357380.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 512,
"cds_start": 623,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001370453.1",
"protein_id": "NP_001357382.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 512,
"cds_start": 623,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Thr208Ile",
"transcript": "NM_001370454.1",
"protein_id": "NP_001357383.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 512,
"cds_start": 623,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256237.3",
"protein_id": "XP_005256294.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256238.3",
"protein_id": "XP_005256295.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 4408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256239.3",
"protein_id": "XP_005256296.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256240.5",
"protein_id": "XP_005256297.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256241.5",
"protein_id": "XP_005256298.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256242.5",
"protein_id": "XP_005256299.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256244.4",
"protein_id": "XP_005256301.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_005256245.3",
"protein_id": "XP_005256302.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_006721338.3",
"protein_id": "XP_006721401.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_006721339.5",
"protein_id": "XP_006721402.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_006721340.4",
"protein_id": "XP_006721403.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_011523462.3",
"protein_id": "XP_011521764.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434906.1",
"protein_id": "XP_047290862.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 698,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_005256246.3",
"protein_id": "XP_005256303.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_005256248.3",
"protein_id": "XP_005256305.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_005256252.3",
"protein_id": "XP_005256309.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_005256254.3",
"protein_id": "XP_005256311.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_006721342.3",
"protein_id": "XP_006721405.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_011523466.3",
"protein_id": "XP_011521768.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_011523468.3",
"protein_id": "XP_011521770.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 693,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_006721347.3",
"protein_id": "XP_006721410.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434907.1",
"protein_id": "XP_047290863.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434908.1",
"protein_id": "XP_047290864.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434909.1",
"protein_id": "XP_047290865.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434910.1",
"protein_id": "XP_047290866.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434911.1",
"protein_id": "XP_047290867.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1163C>T",
"hgvs_p": "p.Thr388Ile",
"transcript": "XM_047434912.1",
"protein_id": "XP_047290868.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 692,
"cds_start": 1163,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_005256255.3",
"protein_id": "XP_005256312.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_017023892.2",
"protein_id": "XP_016879381.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 4283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_047434913.1",
"protein_id": "XP_047290869.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_047434914.1",
"protein_id": "XP_047290870.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_047434915.1",
"protein_id": "XP_047290871.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile",
"transcript": "XM_047434916.1",
"protein_id": "XP_047290872.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 687,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "n.*811C>T",
"hgvs_p": null,
"transcript": "ENST00000564907.5",
"protein_id": "ENSP00000455245.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "n.*811C>T",
"hgvs_p": null,
"transcript": "ENST00000565539.5",
"protein_id": "ENSP00000457612.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "n.1183C>T",
"hgvs_p": null,
"transcript": "ENST00000678252.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "n.*811C>T",
"hgvs_p": null,
"transcript": "ENST00000564907.5",
"protein_id": "ENSP00000455245.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "n.*811C>T",
"hgvs_p": null,
"transcript": "ENST00000565539.5",
"protein_id": "ENSP00000457612.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"hgvs_c": "c.417+690C>T",
"hgvs_p": null,
"transcript": "ENST00000565391.1",
"protein_id": "ENSP00000456731.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRG1",
"gene_hgnc_id": 4512,
"dbsnp": "rs1305914929",
"frequency_reference_population": 6.8547894e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85479e-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": 0.9781507253646851,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.939,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9814,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.57,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000562631.7",
"gene_symbol": "ADGRG1",
"hgnc_id": 4512,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Ile"
}
],
"clinvar_disease": "Bilateral frontoparietal polymicrogyria",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Bilateral frontoparietal polymicrogyria",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}