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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: 2-241395093-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241395093&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241395093,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000264042.8",
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "NM_014808.4",
"protein_id": "NP_055623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": "ENST00000264042.8",
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "ENST00000264042.8",
"protein_id": "ENSP00000264042.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": "NM_014808.4",
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "ENST00000373287.8",
"protein_id": "ENSP00000362384.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": -4,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2580,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "NM_001282983.2",
"protein_id": "NP_001269912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": -4,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2590,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "NM_001282984.2",
"protein_id": "NP_001269913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2376,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "ENST00000627550.2",
"protein_id": "ENSP00000486597.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2122,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "ENST00000418082.1",
"protein_id": "ENSP00000393376.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 456,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "ENST00000445489.1",
"protein_id": "ENSP00000388167.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "n.367+7781A>G",
"hgvs_p": null,
"transcript": "ENST00000464142.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "n.218+7781A>G",
"hgvs_p": null,
"transcript": "ENST00000467260.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "n.103-8735A>G",
"hgvs_p": null,
"transcript": "ENST00000473082.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 397,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "n.302-350A>G",
"hgvs_p": null,
"transcript": "ENST00000478489.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "n.298-350A>G",
"hgvs_p": null,
"transcript": "ENST00000479427.5",
"protein_id": null,
"transcript_support_level": 3,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "n.355-350A>G",
"hgvs_p": null,
"transcript": "ENST00000492868.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
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"transcript": "XM_011512233.1",
"protein_id": "XP_011510535.1",
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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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "XM_011512234.2",
"protein_id": "XP_011510536.1",
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},
{
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],
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"gene_symbol": "FARP2",
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"hgvs_c": "c.184-8735A>G",
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"transcript": "XM_024453259.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "XM_047446510.1",
"protein_id": "XP_047302466.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
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"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
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"transcript": "XM_047446511.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "FARP2",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.184-8735A>G",
"hgvs_p": null,
"transcript": "XM_005247050.4",
"protein_id": "XP_005247107.1",
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"feature": null
}
],
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"dbsnp": "rs3821280",
"frequency_reference_population": 0.08936455,
"hom_count_reference_population": 623,
"allele_count_reference_population": 13602,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0893646,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 13602,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 623,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.136,
"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": "ENST00000264042.8",
"gene_symbol": "FARP2",
"hgnc_id": 16460,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.184-8735A>G",
"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
}