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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: 18-54933466-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54933466&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 54933466,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000591504.6",
"consequences": [
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "NM_025214.3",
"protein_id": "NP_079490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "ENST00000591504.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "ENST00000591504.6",
"protein_id": "ENSP00000466690.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "NM_025214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "ENST00000432185.5",
"protein_id": "ENSP00000413406.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "NM_001143829.2",
"protein_id": "NP_001137301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "ENST00000337363.8",
"protein_id": "ENSP00000337209.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.201+1354A>C",
"hgvs_p": null,
"transcript": "ENST00000592040.5",
"protein_id": "ENSP00000466731.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": -4,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "n.574+1354A>C",
"hgvs_p": null,
"transcript": "ENST00000592294.1",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "XM_006722552.4",
"protein_id": "XP_006722615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "XM_011526199.3",
"protein_id": "XP_011524501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "XM_011526200.3",
"protein_id": "XP_011524502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
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"cds_length": 1008,
"cdna_start": null,
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"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
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"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>C",
"hgvs_p": null,
"transcript": "XM_011526201.3",
"protein_id": "XP_011524503.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
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"gene_symbol": "CCDC68",
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"hgvs_c": "c.600+1354A>C",
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"transcript": "XM_047437864.1",
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},
{
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"strand": false,
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],
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"intron_rank": 7,
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"gene_symbol": "CCDC68",
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"hgvs_c": "c.600+1354A>C",
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"transcript": "XM_047437865.1",
"protein_id": "XP_047293821.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CCDC68",
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"hgvs_c": "c.600+1354A>C",
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"transcript": "XM_047437866.1",
"protein_id": "XP_047293822.1",
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},
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],
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"protein_id": "XP_011524504.1",
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},
{
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],
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"gene_symbol": "CCDC68",
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"hgvs_c": "c.600+1354A>C",
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"transcript": "XM_047437867.1",
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"transcript": "XM_047437868.1",
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},
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"strand": false,
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],
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"intron_rank": 6,
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"gene_symbol": "CCDC68",
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"hgvs_c": "c.459+1354A>C",
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"transcript": "XM_011526203.3",
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},
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],
"exon_rank": null,
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"intron_rank": 6,
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},
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.459+1354A>C",
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"transcript": "XM_047437871.1",
"protein_id": "XP_047293827.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
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"hgvs_c": "c.600+1354A>C",
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"transcript": "XM_011526204.4",
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "CCDC68",
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"dbsnp": "rs9964104",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.38,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000591504.6",
"gene_symbol": "CCDC68",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}