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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: 1-37930275-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37930275&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 37930275,
"ref": "A",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000373021.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.*1210T>A",
"hgvs_p": null,
"transcript": "ENST00000373021.1",
"protein_id": "ENSP00000362112.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3934,
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.532+1638T>A",
"hgvs_p": null,
"transcript": "NM_005540.3",
"protein_id": "NP_005531.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": "ENST00000373024.8",
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.532+1638T>A",
"hgvs_p": null,
"transcript": "ENST00000373024.8",
"protein_id": "ENSP00000362115.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": "NM_005540.3",
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.772+1398T>A",
"hgvs_p": null,
"transcript": "ENST00000373026.5",
"protein_id": "ENSP00000362117.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3230,
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.532+1638T>A",
"hgvs_p": null,
"transcript": "NM_001365820.1",
"protein_id": "NP_001352749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4482,
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.526+1638T>A",
"hgvs_p": null,
"transcript": "NM_001365821.1",
"protein_id": "NP_001352750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4448,
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.466+1638T>A",
"hgvs_p": null,
"transcript": "NM_001365822.1",
"protein_id": "NP_001352751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4384,
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.337+1638T>A",
"hgvs_p": null,
"transcript": "NM_001365823.1",
"protein_id": "NP_001352752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4633,
"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": 25,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.337+1638T>A",
"hgvs_p": null,
"transcript": "NM_001365824.1",
"protein_id": "NP_001352753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4636,
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.175+1638T>A",
"hgvs_p": null,
"transcript": "NM_001365825.1",
"protein_id": "NP_001352754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
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"cds_length": 2385,
"cdna_start": null,
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"cdna_length": 4356,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.40+1398T>A",
"hgvs_p": null,
"transcript": "NM_001297434.2",
"protein_id": "NP_001284363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "INPP5B",
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"hgvs_c": "c.40+1398T>A",
"hgvs_p": null,
"transcript": "ENST00000373027.5",
"protein_id": "ENSP00000362118.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "c.-125+1398T>A",
"hgvs_p": null,
"transcript": "NM_001350227.2",
"protein_id": "NP_001337156.1",
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"aa_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "INPP5B",
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"hgvs_c": "c.-195+1638T>A",
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"transcript": "NM_001350228.1",
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},
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],
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"gene_symbol": "INPP5B",
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"hgvs_c": "n.805+1638T>A",
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"transcript": "NR_158628.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "INPP5B",
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},
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],
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"gene_symbol": "INPP5B",
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"hgvs_c": "n.606+1658T>A",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "INPP5B",
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"hgvs_c": "n.119+1398T>A",
"hgvs_p": null,
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},
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 7,
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"gene_symbol": "INPP5B",
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"hgvs_c": "c.532+1638T>A",
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},
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},
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],
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"gene_symbol": "INPP5B",
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},
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"consequences": [
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],
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"gene_symbol": "INPP5B",
"gene_hgnc_id": 6077,
"hgvs_c": "n.626+1638T>A",
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"transcript": "XR_007059977.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INPP5B",
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"hgvs_c": "n.119+1398T>A",
"hgvs_p": null,
"transcript": "XR_007059978.1",
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},
{
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{
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}
],
"gene_symbol": "INPP5B",
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"dbsnp": "rs16824514",
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"gnomad_exomes_af": 1,
"gnomad_genomes_af": 0.567665,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 86310,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 27234,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.013,
"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,
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"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": "ENST00000373021.1",
"gene_symbol": "INPP5B",
"hgnc_id": 6077,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1210T>A",
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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
}