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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: 17-57493596-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57493596&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57493596,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000284073.7",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.406-36080G>A",
"hgvs_p": null,
"transcript": "NM_138962.4",
"protein_id": "NP_620412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": "ENST00000284073.7",
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.406-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000284073.7",
"protein_id": "ENSP00000284073.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": "NM_138962.4",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.94-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000579180.2",
"protein_id": "ENSP00000462264.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1635,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.367-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000675656.1",
"protein_id": "ENSP00000501595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2247,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.406-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000674964.1",
"protein_id": "ENSP00000502137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6301,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.340-36080G>A",
"hgvs_p": null,
"transcript": "NM_001322250.2",
"protein_id": "NP_001309179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6282,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.340-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000416426.6",
"protein_id": "ENSP00000414671.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1714,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.223-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000442934.6",
"protein_id": "ENSP00000392607.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1624,
"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": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.406-36080G>A",
"hgvs_p": null,
"transcript": "NM_001322251.2",
"protein_id": "NP_001309180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.394-36080G>A",
"hgvs_p": null,
"transcript": "NM_170721.2",
"protein_id": "NP_733839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.394-36080G>A",
"hgvs_p": null,
"transcript": "ENST00000322684.7",
"protein_id": "ENSP00000313616.3",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MSI2",
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"hgvs_c": "c.57+6307G>A",
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"transcript": "ENST00000674898.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MSI2",
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"hgvs_c": "n.228+86557G>A",
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"transcript": "ENST00000579205.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "MSI2",
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"transcript": "ENST00000579505.5",
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},
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],
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "MSI2",
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},
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],
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"gene_symbol": "MSI2",
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},
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "MSI2",
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"hgvs_c": "c.406-36080G>A",
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"transcript": "XM_005257015.4",
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},
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "MSI2",
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"hgvs_c": "c.406-36080G>A",
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"transcript": "XM_047435311.1",
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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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"intron_rank": 6,
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"gene_symbol": "MSI2",
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"hgvs_c": "c.406-36080G>A",
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"transcript": "XM_047435313.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MSI2",
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"hgvs_c": "c.406-36080G>A",
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},
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},
{
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"intron_variant"
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"gene_symbol": "MSI2",
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}
],
"gene_symbol": "MSI2",
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"dbsnp": "rs933534",
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"hom_count_reference_population": 61449,
"allele_count_reference_population": 135504,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.905545,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 135504,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 61449,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.714,
"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": "ENST00000284073.7",
"gene_symbol": "MSI2",
"hgnc_id": 18585,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.406-36080G>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
}