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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: 18-69867396-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=69867396&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 69867396,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000582621.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "NM_001303618.2",
"protein_id": "NP_001290547.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 12518,
"mane_select": "ENST00000582621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "ENST00000582621.6",
"protein_id": "ENSP00000461947.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 12518,
"mane_select": "NM_001303618.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "ENST00000280200.8",
"protein_id": "ENSP00000280200.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 12319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.381G>A",
"hgvs_p": "p.Glu127Glu",
"transcript": "ENST00000581982.5",
"protein_id": "ENSP00000464084.1",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 181,
"cds_start": 381,
"cds_end": null,
"cds_length": 546,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "NM_006566.4",
"protein_id": "NP_006557.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 12123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.381G>A",
"hgvs_p": "p.Glu127Glu",
"transcript": "NM_001303619.2",
"protein_id": "NP_001290548.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 181,
"cds_start": 381,
"cds_end": null,
"cds_length": 546,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 11714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.381G>A",
"hgvs_p": "p.Glu127Glu",
"transcript": "ENST00000577287.5",
"protein_id": "ENSP00000462453.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 181,
"cds_start": 381,
"cds_end": null,
"cds_length": 546,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "XM_005266642.4",
"protein_id": "XP_005266699.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 12222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "XM_047437274.1",
"protein_id": "XP_047293230.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 12363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu",
"transcript": "XM_047437275.1",
"protein_id": "XP_047293231.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 12264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Glu159Glu",
"transcript": "XM_006722374.4",
"protein_id": "XP_006722437.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 213,
"cds_start": 477,
"cds_end": null,
"cds_length": 642,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 11851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.381G>A",
"hgvs_p": "p.Glu127Glu",
"transcript": "XM_047437277.1",
"protein_id": "XP_047293233.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 181,
"cds_start": 381,
"cds_end": null,
"cds_length": 546,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 12036,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "n.110-25001G>A",
"hgvs_p": null,
"transcript": "ENST00000578928.1",
"protein_id": "ENSP00000463152.1",
"transcript_support_level": 4,
"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": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"dbsnp": "rs72481819",
"frequency_reference_population": 0.059953656,
"hom_count_reference_population": 3480,
"allele_count_reference_population": 93559,
"gnomad_exomes_af": 0.0609589,
"gnomad_genomes_af": 0.050645,
"gnomad_exomes_ac": 85856,
"gnomad_genomes_ac": 7703,
"gnomad_exomes_homalt": 3179,
"gnomad_genomes_homalt": 301,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.156,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000582621.6",
"gene_symbol": "CD226",
"hgnc_id": 16961,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.846G>A",
"hgvs_p": "p.Glu282Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}