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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: X-136349077-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136349077&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136349077,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394143.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile",
"transcript": "NM_153834.4",
"protein_id": "NP_722576.3",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 3080,
"cds_start": 5371,
"cds_end": null,
"cds_length": 9243,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 9933,
"mane_select": "ENST00000394143.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile",
"transcript": "ENST00000394143.6",
"protein_id": "ENSP00000377699.1",
"transcript_support_level": 1,
"aa_start": 1791,
"aa_end": null,
"aa_length": 3080,
"cds_start": 5371,
"cds_end": null,
"cds_length": 9243,
"cdna_start": 5662,
"cdna_end": null,
"cdna_length": 9933,
"mane_select": "NM_153834.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.4756T>A",
"hgvs_p": "p.Phe1586Ile",
"transcript": "ENST00000394141.1",
"protein_id": "ENSP00000377697.1",
"transcript_support_level": 1,
"aa_start": 1586,
"aa_end": null,
"aa_length": 2875,
"cds_start": 4756,
"cds_end": null,
"cds_length": 8628,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 8971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile",
"transcript": "ENST00000370652.5",
"protein_id": "ENSP00000359686.1",
"transcript_support_level": 5,
"aa_start": 1791,
"aa_end": null,
"aa_length": 3080,
"cds_start": 5371,
"cds_end": null,
"cds_length": 9243,
"cdna_start": 5551,
"cdna_end": null,
"cdna_length": 9820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile",
"transcript": "XM_011531269.3",
"protein_id": "XP_011529571.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 3080,
"cds_start": 5371,
"cds_end": null,
"cds_length": 9243,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 9468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile",
"transcript": "XM_047441830.1",
"protein_id": "XP_047297786.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 3035,
"cds_start": 5371,
"cds_end": null,
"cds_length": 9108,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 9333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5182T>A",
"hgvs_p": "p.Phe1728Ile",
"transcript": "XM_011531271.3",
"protein_id": "XP_011529573.1",
"transcript_support_level": null,
"aa_start": 1728,
"aa_end": null,
"aa_length": 3017,
"cds_start": 5182,
"cds_end": null,
"cds_length": 9054,
"cdna_start": 5400,
"cdna_end": null,
"cdna_length": 9343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile",
"transcript": "XM_047441831.1",
"protein_id": "XP_047297787.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 2810,
"cds_start": 5371,
"cds_end": null,
"cds_length": 8433,
"cdna_start": 5525,
"cdna_end": null,
"cdna_length": 8686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRG4",
"gene_hgnc_id": 18992,
"dbsnp": "rs5930932",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.033104002475738525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.794,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394143.6",
"gene_symbol": "ADGRG4",
"hgnc_id": 18992,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5371T>A",
"hgvs_p": "p.Phe1791Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}