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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: 1-48742946-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=48742946&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 48742946,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000371833.4",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-79705C>A",
"hgvs_p": null,
"transcript": "NM_032785.4",
"protein_id": "NP_116174.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "ENST00000371839.6",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-79705C>A",
"hgvs_p": null,
"transcript": "ENST00000371839.6",
"protein_id": "ENSP00000360905.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "NM_032785.4",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.746-175C>A",
"hgvs_p": null,
"transcript": "NM_024603.4",
"protein_id": "NP_078879.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "ENST00000371833.4",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.746-175C>A",
"hgvs_p": null,
"transcript": "ENST00000371833.4",
"protein_id": "ENSP00000360899.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "NM_024603.4",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.170-79705C>A",
"hgvs_p": null,
"transcript": "ENST00000416121.5",
"protein_id": "ENSP00000401622.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3938,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "n.929-175C>A",
"hgvs_p": null,
"transcript": "ENST00000463562.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1465,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.671-79705C>A",
"hgvs_p": null,
"transcript": "NM_001323574.2",
"protein_id": "NP_001310503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.671-79705C>A",
"hgvs_p": null,
"transcript": "NM_001323573.2",
"protein_id": "NP_001310502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": -4,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2998,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-79705C>A",
"hgvs_p": null,
"transcript": "NM_001323575.2",
"protein_id": "NP_001310504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2962,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.491-175C>A",
"hgvs_p": null,
"transcript": "NM_001349795.2",
"protein_id": "NP_001336724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
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"cds_length": 1011,
"cdna_start": null,
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"cdna_length": 1967,
"mane_select": null,
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"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGBL4",
"gene_hgnc_id": 25892,
"hgvs_c": "c.635-79705C>A",
"hgvs_p": null,
"transcript": "ENST00000371838.5",
"protein_id": "ENSP00000360904.1",
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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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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "BEND5",
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"transcript": "NM_001302082.2",
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},
{
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"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "BEND5",
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"hgvs_c": "c.239-175C>A",
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"transcript": "NM_001349793.2",
"protein_id": "NP_001336722.1",
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},
{
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],
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"gene_symbol": "BEND5",
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},
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],
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},
{
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],
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"exon_count": 2,
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"gene_symbol": "BEND5",
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"hgvs_c": "n.357-14903C>A",
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},
{
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],
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"gene_symbol": "AGBL4",
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},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "BEND5",
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"hgvs_c": "n.888-6494C>A",
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"transcript": "NR_146232.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "AGBL4",
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"hgvs_c": "c.671-79705C>A",
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"transcript": "XM_011542308.3",
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],
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],
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},
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],
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"gene_symbol": "BEND5",
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"hgvs_c": "c.584-175C>A",
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"transcript": "XM_047430497.1",
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEND5",
"gene_hgnc_id": 25668,
"hgvs_c": "c.491-175C>A",
"hgvs_p": null,
"transcript": "XM_011542141.4",
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},
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},
{
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},
{
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],
"gene_symbol": "BEND5",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000197327,
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"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
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"computational_score_selected": -0.25999999046325684,
"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": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.432,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371833.4",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000371839.6",
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"intron_variant"
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"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
}