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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: 15-28709310-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=28709310&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 28709310,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000563027.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Thr",
"transcript": "NM_001282468.3",
"protein_id": "NP_001269397.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 632,
"cds_start": 266,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "ENST00000563027.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Thr",
"transcript": "ENST00000563027.2",
"protein_id": "ENSP00000456927.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 632,
"cds_start": 266,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "NM_001282468.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Arg135Thr",
"transcript": "XM_005268284.6",
"protein_id": "XP_005268341.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 678,
"cds_start": 404,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 7079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Arg135Thr",
"transcript": "XM_005268285.6",
"protein_id": "XP_005268342.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 655,
"cds_start": 404,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.227G>C",
"hgvs_p": "p.Arg76Thr",
"transcript": "XM_006720654.4",
"protein_id": "XP_006720717.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 619,
"cds_start": 227,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Arg135Thr",
"transcript": "XM_011521952.4",
"protein_id": "XP_011520254.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 560,
"cds_start": 404,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.404G>C",
"hgvs_p": "p.Arg135Thr",
"transcript": "XM_011521953.4",
"protein_id": "XP_011520255.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 495,
"cds_start": 404,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "n.521G>C",
"hgvs_p": null,
"transcript": "ENST00000563213.1",
"protein_id": null,
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"hgvs_c": "c.-188G>C",
"hgvs_p": null,
"transcript": "XM_011521951.4",
"protein_id": "XP_011520253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GOLGA8M",
"gene_hgnc_id": 44404,
"dbsnp": "rs2943134",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000286181,
"gnomad_genomes_af": 0.0000329911,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11229398846626282,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1073,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.804,
"phylop100way_prediction": "Uncertain_significance",
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000563027.2",
"gene_symbol": "GOLGA8M",
"hgnc_id": 44404,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.266G>C",
"hgvs_p": "p.Arg89Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}