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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: 1-32204044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32204044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32204044,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000373602.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "NM_024296.5",
"protein_id": "NP_077272.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 200,
"cds_start": 330,
"cds_end": null,
"cds_length": 603,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 880,
"mane_select": "ENST00000373602.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "ENST00000373602.10",
"protein_id": "ENSP00000362704.5",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 200,
"cds_start": 330,
"cds_end": null,
"cds_length": 603,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 880,
"mane_select": "NM_024296.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "ENST00000421922.6",
"protein_id": "ENSP00000413017.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 241,
"cds_start": 330,
"cds_end": null,
"cds_length": 726,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "NM_001301011.2",
"protein_id": "NP_001287940.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 241,
"cds_start": 330,
"cds_end": null,
"cds_length": 726,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "NM_001437632.1",
"protein_id": "NP_001424561.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 115,
"cds_start": 330,
"cds_end": null,
"cds_length": 348,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "ENST00000681230.1",
"protein_id": "ENSP00000506476.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 115,
"cds_start": 330,
"cds_end": null,
"cds_length": 348,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "XM_011542113.4",
"protein_id": "XP_011540415.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 241,
"cds_start": 330,
"cds_end": null,
"cds_length": 726,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "XM_047430215.1",
"protein_id": "XP_047286171.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 241,
"cds_start": 330,
"cds_end": null,
"cds_length": 726,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 7240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "XM_017002307.2",
"protein_id": "XP_016857796.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 200,
"cds_start": 330,
"cds_end": null,
"cds_length": 603,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe",
"transcript": "XM_047430217.1",
"protein_id": "XP_047286173.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 200,
"cds_start": 330,
"cds_end": null,
"cds_length": 603,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "n.330C>T",
"hgvs_p": null,
"transcript": "ENST00000461819.5",
"protein_id": "ENSP00000431257.1",
"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": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "n.570C>T",
"hgvs_p": null,
"transcript": "ENST00000483009.1",
"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": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "n.2189C>T",
"hgvs_p": null,
"transcript": "ENST00000680046.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "n.2206C>T",
"hgvs_p": null,
"transcript": "ENST00000680626.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"hgvs_c": "n.815C>T",
"hgvs_p": null,
"transcript": "ENST00000681089.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC28B",
"gene_hgnc_id": 28163,
"dbsnp": "rs41263993",
"frequency_reference_population": 0.012834469,
"hom_count_reference_population": 236,
"allele_count_reference_population": 19949,
"gnomad_exomes_af": 0.0130932,
"gnomad_genomes_af": 0.0104517,
"gnomad_exomes_ac": 18358,
"gnomad_genomes_ac": 1591,
"gnomad_exomes_homalt": 211,
"gnomad_genomes_homalt": 25,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6460000276565552,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.457,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0044426556845783,
"dbscsnv_ada_prediction": "Benign",
"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": "ENST00000373602.10",
"gene_symbol": "CCDC28B",
"hgnc_id": 28163,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Phe110Phe"
}
],
"clinvar_disease": " modifier of,Bardet-Biedl syndrome,Bardet-Biedl syndrome 1,CCDC28B-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Bardet-Biedl syndrome 1, modifier of|Bardet-Biedl syndrome|CCDC28B-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}