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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: 1-19423400-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19423400&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19423400,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000264202.8",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "NM_004930.5",
"protein_id": "NP_004921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": "ENST00000264202.8",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "ENST00000264202.8",
"protein_id": "ENSP00000264202.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": "NM_004930.5",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "ENST00000375144.6",
"protein_id": "ENSP00000364286.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5943,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.91-3650G>A",
"hgvs_p": null,
"transcript": "NM_001282162.2",
"protein_id": "NP_001269091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1677,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.91-3650G>A",
"hgvs_p": null,
"transcript": "ENST00000433834.5",
"protein_id": "ENSP00000401010.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": -4,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1462,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "NM_001206540.3",
"protein_id": "NP_001193469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1788,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "ENST00000375142.6",
"protein_id": "ENSP00000364284.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1788,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "ENST00000674432.1",
"protein_id": "ENSP00000501528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4370,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.82-3650G>A",
"hgvs_p": null,
"transcript": "NM_001206541.3",
"protein_id": "NP_001193470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": -4,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2095,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.82-3650G>A",
"hgvs_p": null,
"transcript": "ENST00000264203.7",
"protein_id": "ENSP00000264203.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": -4,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
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"cdna_length": 2068,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.4-3650G>A",
"hgvs_p": null,
"transcript": "NM_001313932.2",
"protein_id": "NP_001300861.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "CAPZB",
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"hgvs_c": "n.105-37774G>A",
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"transcript": "ENST00000459967.6",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CAPZB",
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"hgvs_c": "n.103-3650G>A",
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"transcript": "ENST00000482808.2",
"protein_id": null,
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"cds_start": -4,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "CAPZB",
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},
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],
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CAPZB",
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"hgvs_c": "c.91-3650G>A",
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"transcript": "XM_011542228.4",
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},
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],
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},
{
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "CAPZB",
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"hgvs_c": "c.85-3650G>A",
"hgvs_p": null,
"transcript": "XM_047431397.1",
"protein_id": "XP_047287353.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CAPZB",
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"hgvs_c": "c.-33-3650G>A",
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"transcript": "XM_047431400.1",
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},
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],
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},
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],
"exon_rank": null,
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"gene_symbol": "CAPZB",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"hgvs_c": "c.91-3650G>A",
"hgvs_p": null,
"transcript": "XM_017002430.3",
"protein_id": "XP_016857919.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAPZB",
"gene_hgnc_id": 1491,
"dbsnp": "rs12033437",
"frequency_reference_population": 0.31290022,
"hom_count_reference_population": 7571,
"allele_count_reference_population": 47400,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.3129,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 47400,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7571,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.149,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000264202.8",
"gene_symbol": "CAPZB",
"hgnc_id": 1491,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4-3650G>A",
"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
}