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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: 1-117025888-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=117025888&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 117025888,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_004258.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu",
"transcript": "NM_001256106.3",
"protein_id": "NP_001243035.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682167.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256106.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu",
"transcript": "ENST00000682167.1",
"protein_id": "ENSP00000508039.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256106.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682167.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu",
"transcript": "ENST00000369470.1",
"protein_id": "ENSP00000358482.1",
"transcript_support_level": 1,
"aa_start": 936,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369470.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu",
"transcript": "NM_001256109.3",
"protein_id": "NP_001243038.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256109.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu",
"transcript": "NM_004258.6",
"protein_id": "NP_004249.2",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004258.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu",
"transcript": "ENST00000256652.8",
"protein_id": "ENSP00000256652.4",
"transcript_support_level": 2,
"aa_start": 936,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256652.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Leu874Leu",
"transcript": "NM_001256111.3",
"protein_id": "NP_001243040.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 959,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256111.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2622C>A",
"hgvs_p": "p.Leu874Leu",
"transcript": "ENST00000964338.1",
"protein_id": "ENSP00000634397.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 959,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964338.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2589C>A",
"hgvs_p": "p.Leu863Leu",
"transcript": "ENST00000893743.1",
"protein_id": "ENSP00000563802.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 948,
"cds_start": 2589,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893743.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2589C>A",
"hgvs_p": "p.Leu863Leu",
"transcript": "ENST00000893744.1",
"protein_id": "ENSP00000563803.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 948,
"cds_start": 2589,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893744.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2403C>A",
"hgvs_p": "p.Leu801Leu",
"transcript": "ENST00000893746.1",
"protein_id": "ENSP00000563805.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 886,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893746.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2397C>A",
"hgvs_p": "p.Leu799Leu",
"transcript": "ENST00000893745.1",
"protein_id": "ENSP00000563804.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 884,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893745.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"hgvs_c": "c.2853C>A",
"hgvs_p": "p.Leu951Leu",
"transcript": "XM_047434715.1",
"protein_id": "XP_047290671.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2853,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101-AS1",
"gene_hgnc_id": 55665,
"hgvs_c": "n.1213G>T",
"hgvs_p": null,
"transcript": "ENST00000421254.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000421254.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101-AS1",
"gene_hgnc_id": 55665,
"hgvs_c": "n.1408G>T",
"hgvs_p": null,
"transcript": "ENST00000445523.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000445523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101-AS1",
"gene_hgnc_id": 55665,
"hgvs_c": "n.1494G>T",
"hgvs_p": null,
"transcript": "ENST00000728485.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000728485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD101-AS1",
"gene_hgnc_id": 55665,
"hgvs_c": "n.1408G>T",
"hgvs_p": null,
"transcript": "NR_110786.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_110786.1"
}
],
"gene_symbol": "CD101",
"gene_hgnc_id": 5949,
"dbsnp": "rs138020050",
"frequency_reference_population": 0.00081068894,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1305,
"gnomad_exomes_af": 0.000827461,
"gnomad_genomes_af": 0.000650152,
"gnomad_exomes_ac": 1206,
"gnomad_genomes_ac": 99,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.894,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004258.6",
"gene_symbol": "CD101",
"hgnc_id": 5949,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Leu936Leu"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000421254.2",
"gene_symbol": "CD101-AS1",
"hgnc_id": 55665,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1213G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}