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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: 21-41425679-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41425679&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41425679,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001144925.2",
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-308-1527G>A",
"hgvs_p": null,
"transcript": "NM_001144925.2",
"protein_id": "NP_001138397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3427,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-308-1527G>A",
"hgvs_p": null,
"transcript": "ENST00000398600.6",
"protein_id": "ENSP00000381601.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3470,
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-327-1527G>A",
"hgvs_p": null,
"transcript": "ENST00000413778.6",
"protein_id": "ENSP00000408498.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2672,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-308-1527G>A",
"hgvs_p": null,
"transcript": "ENST00000679445.1",
"protein_id": "ENSP00000505630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3576,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-209-2076G>A",
"hgvs_p": null,
"transcript": "ENST00000679464.1",
"protein_id": "ENSP00000505874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3653,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-209-2076G>A",
"hgvs_p": null,
"transcript": "ENST00000679626.1",
"protein_id": "ENSP00000506481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3699,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-308-1527G>A",
"hgvs_p": null,
"transcript": "ENST00000679911.1",
"protein_id": "ENSP00000505189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3690,
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-308-1527G>A",
"hgvs_p": null,
"transcript": "ENST00000680182.1",
"protein_id": "ENSP00000506395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3649,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-308-1527G>A",
"hgvs_p": null,
"transcript": "ENST00000680347.1",
"protein_id": "ENSP00000506183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3553,
"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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"gene_symbol": "MX1",
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"hgvs_c": "c.-308-1527G>A",
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"transcript": "ENST00000681191.1",
"protein_id": "ENSP00000505657.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "MX1",
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"hgvs_c": "c.-308-1527G>A",
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"transcript": "ENST00000681415.1",
"protein_id": "ENSP00000506062.1",
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},
{
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],
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],
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},
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],
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],
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},
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],
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],
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"transcript": "XM_047440766.1",
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},
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],
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],
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],
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"hgvs_c": "c.-791G>A",
"hgvs_p": null,
"transcript": "ENST00000419044.6",
"protein_id": "ENSP00000392151.2",
"transcript_support_level": 3,
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"feature": null
}
],
"gene_symbol": "MX1",
"gene_hgnc_id": 7532,
"dbsnp": "rs462903",
"frequency_reference_population": 0.69212705,
"hom_count_reference_population": 37980,
"allele_count_reference_population": 105213,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.692127,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 105213,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 37980,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.091,
"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": "NM_001144925.2",
"gene_symbol": "MX1",
"hgnc_id": 7532,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-308-1527G>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
}