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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: 15-82989977-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82989977&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82989977,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_031452.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "NM_031452.4",
"protein_id": "NP_113640.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304191.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031452.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000304191.4",
"protein_id": "ENSP00000307181.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031452.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304191.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Asn97Asn",
"transcript": "ENST00000933984.1",
"protein_id": "ENSP00000604043.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 126,
"cds_start": 291,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933984.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000875578.1",
"protein_id": "ENSP00000545637.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875578.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000875579.1",
"protein_id": "ENSP00000545638.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875579.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000875580.1",
"protein_id": "ENSP00000545639.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875580.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000875581.1",
"protein_id": "ENSP00000545640.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875581.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000875582.1",
"protein_id": "ENSP00000545641.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875582.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000933985.1",
"protein_id": "ENSP00000604044.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933985.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000933986.1",
"protein_id": "ENSP00000604045.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933986.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000933987.1",
"protein_id": "ENSP00000604046.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933987.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn",
"transcript": "ENST00000957626.1",
"protein_id": "ENSP00000627685.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 118,
"cds_start": 267,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957626.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C15orf40",
"gene_hgnc_id": 28443,
"hgvs_c": "c.367-820G>A",
"hgvs_p": null,
"transcript": "NM_001160116.2",
"protein_id": "NP_001153588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160116.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C15orf40",
"gene_hgnc_id": 28443,
"hgvs_c": "c.367-820G>A",
"hgvs_p": null,
"transcript": "ENST00000538348.6",
"protein_id": "ENSP00000441077.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538348.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C15orf40",
"gene_hgnc_id": 28443,
"hgvs_c": "c.236-820G>A",
"hgvs_p": null,
"transcript": "ENST00000510873.6",
"protein_id": "ENSP00000423436.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510873.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C15orf40",
"gene_hgnc_id": 28443,
"hgvs_c": "c.70-1149G>A",
"hgvs_p": null,
"transcript": "ENST00000514272.2",
"protein_id": "ENSP00000426639.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514272.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259805",
"gene_hgnc_id": null,
"hgvs_c": "n.734+63360C>T",
"hgvs_p": null,
"transcript": "ENST00000566841.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000566841.1"
}
],
"gene_symbol": "RAMAC",
"gene_hgnc_id": 31022,
"dbsnp": "rs372110976",
"frequency_reference_population": 6.8747704e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87477e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.069,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_031452.4",
"gene_symbol": "RAMAC",
"hgnc_id": 31022,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Asn89Asn"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001160116.2",
"gene_symbol": "C15orf40",
"hgnc_id": 28443,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.367-820G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000566841.1",
"gene_symbol": "ENSG00000259805",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.734+63360C>T",
"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
}