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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: 19-1423200-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1423200&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1423200,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000233078.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "NM_018959.4",
"protein_id": "NP_061832.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "ENST00000233078.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "ENST00000233078.9",
"protein_id": "ENSP00000233078.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "NM_018959.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.460+804A>T",
"hgvs_p": null,
"transcript": "NM_001352033.2",
"protein_id": "NP_001338962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "NM_001352034.2",
"protein_id": "NP_001338963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.460+804A>T",
"hgvs_p": null,
"transcript": "ENST00000587079.5",
"protein_id": "ENSP00000465433.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "ENST00000592522.5",
"protein_id": "ENSP00000467680.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "NM_170711.3",
"protein_id": "NP_733829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "ENST00000336761.10",
"protein_id": "ENSP00000337132.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.397+804A>T",
"hgvs_p": null,
"transcript": "ENST00000592453.2",
"protein_id": "ENSP00000467613.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.27+804A>T",
"hgvs_p": null,
"transcript": "NM_001352035.2",
"protein_id": "NP_001338964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2101,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "n.557+804A>T",
"hgvs_p": null,
"transcript": "ENST00000586579.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "DAZAP1",
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"hgvs_c": "n.1964+804A>T",
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"transcript": "ENST00000589484.5",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.892+804A>T",
"hgvs_p": null,
"transcript": "XM_011527904.3",
"protein_id": "XP_011526206.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.892+804A>T",
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"transcript": "XM_011527905.3",
"protein_id": "XP_011526207.1",
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},
{
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],
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"gene_symbol": "DAZAP1",
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"transcript": "XM_011527906.3",
"protein_id": "XP_011526208.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.889+804A>T",
"hgvs_p": null,
"transcript": "XM_011527907.3",
"protein_id": "XP_011526209.1",
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},
{
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],
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"gene_symbol": "DAZAP1",
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"hgvs_c": "c.892+804A>T",
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"transcript": "XM_011527909.4",
"protein_id": "XP_011526211.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.538+804A>T",
"hgvs_p": null,
"transcript": "XM_047438588.1",
"protein_id": "XP_047294544.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.538+804A>T",
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"transcript": "XM_047438589.1",
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},
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],
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"gene_symbol": "DAZAP1",
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},
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],
"exon_rank": null,
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"gene_symbol": "DAZAP1",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.463+804A>T",
"hgvs_p": null,
"transcript": "XM_047438592.1",
"protein_id": "XP_047294548.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DAZAP1",
"gene_hgnc_id": 2683,
"hgvs_c": "c.893-220A>T",
"hgvs_p": null,
"transcript": "XM_017026582.3",
"protein_id": "XP_016882071.1",
"transcript_support_level": null,
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},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "DAZAP1",
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"hgvs_c": "c.27+804A>T",
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"transcript": "XM_047438593.1",
"protein_id": "XP_047294549.1",
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"aa_start": null,
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"aa_length": 262,
"cds_start": -4,
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"cds_length": 789,
"cdna_start": null,
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"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DAZAP1",
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"dbsnp": "rs4807927",
"frequency_reference_population": null,
"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": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.55,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000233078.9",
"gene_symbol": "DAZAP1",
"hgnc_id": 2683,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.463+804A>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
}