← 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: 19-14151115-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14151115&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRL1",
"hgnc_id": 20973,
"hgvs_c": "c.4183C>T",
"hgvs_p": "p.Pro1395Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001008701.3",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ADGRL1-AS1",
"hgnc_id": 55309,
"hgvs_c": "n.80-4037G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000588387.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.0831,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.39421552419662476,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7820,
"cdna_start": 4448,
"cds_end": null,
"cds_length": 4410,
"cds_start": 4168,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_014921.5",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4168C>T",
"hgvs_p": "p.Pro1390Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361434.8",
"protein_coding": true,
"protein_id": "NP_055736.2",
"strand": false,
"transcript": "NM_014921.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7820,
"cdna_start": 4448,
"cds_end": null,
"cds_length": 4410,
"cds_start": 4168,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000361434.8",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4168C>T",
"hgvs_p": "p.Pro1390Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014921.5",
"protein_coding": true,
"protein_id": "ENSP00000355328.2",
"strand": false,
"transcript": "ENST00000361434.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "P",
"aa_start": 1395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7853,
"cdna_start": 4481,
"cds_end": null,
"cds_length": 4425,
"cds_start": 4183,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000340736.10",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4183C>T",
"hgvs_p": "p.Pro1395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340688.5",
"strand": false,
"transcript": "ENST00000340736.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588387.3",
"gene_hgnc_id": 55309,
"gene_symbol": "ADGRL1-AS1",
"hgvs_c": "n.80-4037G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588387.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1476,
"aa_ref": "P",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6085,
"cdna_start": 4504,
"cds_end": null,
"cds_length": 4431,
"cds_start": 4189,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963580.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4189C>T",
"hgvs_p": "p.Pro1397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633639.1",
"strand": false,
"transcript": "ENST00000963580.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "P",
"aa_start": 1395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7835,
"cdna_start": 4463,
"cds_end": null,
"cds_length": 4425,
"cds_start": 4183,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001008701.3",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4183C>T",
"hgvs_p": "p.Pro1395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008701.1",
"strand": false,
"transcript": "NM_001008701.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5143,
"cdna_start": 4499,
"cds_end": null,
"cds_length": 4410,
"cds_start": 4168,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963581.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4168C>T",
"hgvs_p": "p.Pro1390Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633640.1",
"strand": false,
"transcript": "ENST00000963581.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "P",
"aa_start": 1427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7931,
"cdna_start": 4559,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4279,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017026475.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4279C>T",
"hgvs_p": "p.Pro1427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881964.1",
"strand": false,
"transcript": "XM_017026475.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "P",
"aa_start": 1427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": 4669,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4279,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017026476.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4279C>T",
"hgvs_p": "p.Pro1427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881965.1",
"strand": false,
"transcript": "XM_017026476.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "P",
"aa_start": 1427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8984,
"cdna_start": 5612,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4279,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_024451420.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4279C>T",
"hgvs_p": "p.Pro1427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307188.1",
"strand": false,
"transcript": "XM_024451420.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "P",
"aa_start": 1427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8083,
"cdna_start": 4711,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4279,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047438413.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4279C>T",
"hgvs_p": "p.Pro1427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294369.1",
"strand": false,
"transcript": "XM_047438413.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1505,
"aa_ref": "P",
"aa_start": 1426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 4556,
"cds_end": null,
"cds_length": 4518,
"cds_start": 4276,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011527796.3",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4276C>T",
"hgvs_p": "p.Pro1426Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526098.1",
"strand": false,
"transcript": "XM_011527796.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "P",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7913,
"cdna_start": 4541,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4261,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011527798.3",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4261C>T",
"hgvs_p": "p.Pro1421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526100.1",
"strand": false,
"transcript": "XM_011527798.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "P",
"aa_start": 1421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8966,
"cdna_start": 5594,
"cds_end": null,
"cds_length": 4503,
"cds_start": 4261,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047438414.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4261C>T",
"hgvs_p": "p.Pro1421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294370.1",
"strand": false,
"transcript": "XM_047438414.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7910,
"cdna_start": 4538,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4258,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017026477.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4258C>T",
"hgvs_p": "p.Pro1420Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881966.1",
"strand": false,
"transcript": "XM_017026477.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1493,
"aa_ref": "P",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7892,
"cdna_start": 4520,
"cds_end": null,
"cds_length": 4482,
"cds_start": 4240,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_005259818.4",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Pro1414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005259875.1",
"strand": false,
"transcript": "XM_005259818.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1493,
"aa_ref": "P",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8002,
"cdna_start": 4630,
"cds_end": null,
"cds_length": 4482,
"cds_start": 4240,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047438415.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Pro1414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294371.1",
"strand": false,
"transcript": "XM_047438415.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1493,
"aa_ref": "P",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8044,
"cdna_start": 4672,
"cds_end": null,
"cds_length": 4482,
"cds_start": 4240,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047438416.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4240C>T",
"hgvs_p": "p.Pro1414Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294372.1",
"strand": false,
"transcript": "XM_047438416.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1482,
"aa_ref": "P",
"aa_start": 1403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7859,
"cdna_start": 4487,
"cds_end": null,
"cds_length": 4449,
"cds_start": 4207,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017026478.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4207C>T",
"hgvs_p": "p.Pro1403Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881967.1",
"strand": false,
"transcript": "XM_017026478.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1476,
"aa_ref": "P",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7841,
"cdna_start": 4469,
"cds_end": null,
"cds_length": 4431,
"cds_start": 4189,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017026479.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4189C>T",
"hgvs_p": "p.Pro1397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881968.1",
"strand": false,
"transcript": "XM_017026479.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "P",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7820,
"cdna_start": 4448,
"cds_end": null,
"cds_length": 4410,
"cds_start": 4168,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047438417.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4168C>T",
"hgvs_p": "p.Pro1390Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294373.1",
"strand": false,
"transcript": "XM_047438417.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "P",
"aa_start": 1384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7802,
"cdna_start": 4430,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4150,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047438418.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4150C>T",
"hgvs_p": "p.Pro1384Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294374.1",
"strand": false,
"transcript": "XM_047438418.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7547,
"cdna_start": 4175,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011527801.3",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4147C>T",
"hgvs_p": "p.Pro1383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526103.2",
"strand": false,
"transcript": "XM_011527801.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7627,
"cdna_start": 4255,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047438419.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4147C>T",
"hgvs_p": "p.Pro1383Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294375.1",
"strand": false,
"transcript": "XM_047438419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1457,
"aa_ref": "P",
"aa_start": 1378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7532,
"cdna_start": 4160,
"cds_end": null,
"cds_length": 4374,
"cds_start": 4132,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017026480.2",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.4132C>T",
"hgvs_p": "p.Pro1378Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881969.2",
"strand": false,
"transcript": "XM_017026480.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588658.2",
"gene_hgnc_id": 55309,
"gene_symbol": "ADGRL1-AS1",
"hgvs_c": "n.139-4037G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588658.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 550,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592086.3",
"gene_hgnc_id": 55309,
"gene_symbol": "ADGRL1-AS1",
"hgvs_c": "n.80-4037G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000592086.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_045214.1",
"gene_hgnc_id": 55309,
"gene_symbol": "ADGRL1-AS1",
"hgvs_c": "n.73-4037G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_045214.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": null,
"cds_end": null,
"cds_length": 790,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592164.1",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.*93C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465453.1",
"strand": true,
"transcript": "ENST00000592164.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 241,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 729,
"cdna_start": null,
"cds_end": null,
"cds_length": 727,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000593005.5",
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"hgvs_c": "c.*54C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468197.1",
"strand": true,
"transcript": "ENST00000593005.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs749511770",
"effect": "missense_variant",
"frequency_reference_population": 0.0000089385585,
"gene_hgnc_id": 20973,
"gene_symbol": "ADGRL1",
"gnomad_exomes_ac": 11,
"gnomad_exomes_af": 0.00000777942,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197031,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.379,
"pos": 14151115,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.694,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001008701.3"
}
]
}