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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: 16-19536425-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19536425&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19536425,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000694978.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001323572.2",
"protein_id": "NP_001310501.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": "ENST00000694978.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "ENST00000694978.1",
"protein_id": "ENSP00000511625.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": "NM_001323572.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "ENST00000381396.9",
"protein_id": "ENSP00000370803.5",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 1012,
"cds_start": 756,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "ENST00000396208.4",
"protein_id": "ENSP00000379511.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 4363,
"cdna_end": null,
"cdna_length": 8720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "ENST00000396212.6",
"protein_id": "ENSP00000379515.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001199022.3",
"protein_id": "NP_001185951.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1012,
"cds_start": 756,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001323569.2",
"protein_id": "NP_001310498.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1012,
"cds_start": 756,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001323570.2",
"protein_id": "NP_001310499.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001323571.2",
"protein_id": "NP_001310500.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 5658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_014711.6",
"protein_id": "NP_055526.4",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 991,
"cds_start": 756,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001323576.2",
"protein_id": "NP_001310505.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 971,
"cds_start": 756,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "NM_001323577.2",
"protein_id": "NP_001310506.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 971,
"cds_start": 756,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "XM_011545991.3",
"protein_id": "XP_011544293.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1012,
"cds_start": 756,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "XM_011545992.3",
"protein_id": "XP_011544294.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1012,
"cds_start": 756,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "XM_017023908.2",
"protein_id": "XP_016879397.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 1012,
"cds_start": 756,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met",
"transcript": "XM_047434961.1",
"protein_id": "XP_047290917.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 971,
"cds_start": 756,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "n.142-4232C>G",
"hgvs_p": null,
"transcript": "ENST00000562083.1",
"protein_id": "ENSP00000458123.1",
"transcript_support_level": 3,
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"hgvs_c": "c.*228C>G",
"hgvs_p": null,
"transcript": "ENST00000561888.1",
"protein_id": "ENSP00000459410.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCP110",
"gene_hgnc_id": 24342,
"dbsnp": "rs226891",
"frequency_reference_population": 0.8964928,
"hom_count_reference_population": 651781,
"allele_count_reference_population": 1446527,
"gnomad_exomes_af": 0.895332,
"gnomad_genomes_af": 0.907636,
"gnomad_exomes_ac": 1308305,
"gnomad_genomes_ac": 138222,
"gnomad_exomes_homalt": 588787,
"gnomad_genomes_homalt": 62994,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 7.255987952703435e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.004,
"revel_prediction": "Benign",
"alphamissense_score": 0.056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.057,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000694978.1",
"gene_symbol": "CCP110",
"hgnc_id": 24342,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Ile252Met"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}