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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: 2-269352-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=269352&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 269352,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_004300.4",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "NM_004300.4",
"protein_id": "NP_004291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272065.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004300.4"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000272065.10",
"protein_id": "ENSP00000272065.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004300.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272065.10"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000272067.11",
"protein_id": "ENSP00000272067.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272067.11"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000407983.7",
"protein_id": "ENSP00000385404.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407983.7"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000405233.5",
"protein_id": "ENSP00000384307.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405233.5"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000453390.5",
"protein_id": "ENSP00000411121.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453390.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "NM_007099.4",
"protein_id": "NP_009030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007099.4"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2541G>A",
"hgvs_p": null,
"transcript": "ENST00000896690.1",
"protein_id": "ENSP00000566749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896690.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000896688.1",
"protein_id": "ENSP00000566747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896688.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2541G>A",
"hgvs_p": null,
"transcript": "ENST00000896691.1",
"protein_id": "ENSP00000566750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896691.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000896686.1",
"protein_id": "ENSP00000566745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896686.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ACP1",
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"hgvs_c": "c.44-2514G>A",
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"transcript": "NM_001040649.3",
"protein_id": "NP_001035739.1",
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"aa_start": null,
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"aa_length": 112,
"cds_start": null,
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"cds_length": 339,
"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040649.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ACP1",
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"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000896687.1",
"protein_id": "ENSP00000566746.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000896687.1"
},
{
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"canonical": false,
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"strand": true,
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],
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"exon_count": 4,
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"gene_symbol": "ACP1",
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"hgvs_c": "c.44-2514G>A",
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},
{
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],
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"gene_symbol": "ACP1",
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"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000439645.6",
"protein_id": "ENSP00000408596.2",
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"biotype": "protein_coding",
"feature": "ENST00000439645.6"
},
{
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "c.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000896689.1",
"protein_id": "ENSP00000566748.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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"intron_variant"
],
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "ACP1",
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"hgvs_c": "n.90+5G>A",
"hgvs_p": null,
"transcript": "ENST00000405364.2",
"protein_id": "ENSP00000384184.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000405364.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.44-2514G>A",
"hgvs_p": null,
"transcript": "ENST00000413140.5",
"protein_id": "ENSP00000410331.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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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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"biotype": "pseudogene",
"feature": "ENST00000484464.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"hgvs_c": "n.62-2514G>A",
"hgvs_p": null,
"transcript": "NR_024080.2",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_024080.2"
}
],
"gene_symbol": "ACP1",
"gene_hgnc_id": 122,
"dbsnp": "rs6755722",
"frequency_reference_population": 0.31995454,
"hom_count_reference_population": 25430,
"allele_count_reference_population": 150378,
"gnomad_exomes_af": 0.327312,
"gnomad_genomes_af": 0.304565,
"gnomad_exomes_ac": 104078,
"gnomad_genomes_ac": 46300,
"gnomad_exomes_homalt": 17829,
"gnomad_genomes_homalt": 7601,
"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": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.2,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000245277156108894,
"dbscsnv_ada_prediction": "Benign",
"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_004300.4",
"gene_symbol": "ACP1",
"hgnc_id": 122,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.44-2514G>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
}