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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: 19-6919742-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6919742&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6919742,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000312053.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Ile539Phe",
"transcript": "NM_001974.5",
"protein_id": "NP_001965.3",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 886,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": "ENST00000312053.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Ile539Phe",
"transcript": "ENST00000312053.9",
"protein_id": "ENSP00000311545.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 886,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": "NM_001974.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Ile539Phe",
"transcript": "ENST00000250572.12",
"protein_id": "ENSP00000250572.7",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 821,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1459A>T",
"hgvs_p": "p.Ile487Phe",
"transcript": "NM_001256252.2",
"protein_id": "NP_001243181.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 867,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1459A>T",
"hgvs_p": "p.Ile487Phe",
"transcript": "ENST00000381404.8",
"protein_id": "ENSP00000370811.4",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 867,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Ile539Phe",
"transcript": "NM_001256253.2",
"protein_id": "NP_001243182.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 821,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1192A>T",
"hgvs_p": "p.Ile398Phe",
"transcript": "NM_001256254.2",
"protein_id": "NP_001243183.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 745,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1192A>T",
"hgvs_p": "p.Ile398Phe",
"transcript": "ENST00000381407.9",
"protein_id": "ENSP00000370814.4",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 745,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1230,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1084A>T",
"hgvs_p": "p.Ile362Phe",
"transcript": "NM_001256255.2",
"protein_id": "NP_001243184.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 709,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1084A>T",
"hgvs_p": "p.Ile362Phe",
"transcript": "ENST00000450315.7",
"protein_id": "ENSP00000405974.2",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 709,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"hgvs_c": "c.1891A>T",
"hgvs_p": "p.Ile631Phe",
"transcript": "XM_011527794.2",
"protein_id": "XP_011526096.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 978,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105372256",
"gene_hgnc_id": null,
"hgvs_c": "n.64-7354T>A",
"hgvs_p": null,
"transcript": "XR_936288.4",
"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": 234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRE1",
"gene_hgnc_id": 3336,
"dbsnp": "rs461645",
"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": 0.12186899781227112,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.1619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.077,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000312053.9",
"gene_symbol": "ADGRE1",
"hgnc_id": 3336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Ile539Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_936288.4",
"gene_symbol": "LOC105372256",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.64-7354T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}