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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: 1-44308055-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44308055&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44308055,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000372257.7",
"consequences": [
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.758+255C>T",
"hgvs_p": null,
"transcript": "NM_024066.3",
"protein_id": "NP_076971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000372257.7",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.758+255C>T",
"hgvs_p": null,
"transcript": "ENST00000372257.7",
"protein_id": "ENSP00000361331.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_024066.3",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.758+255C>T",
"hgvs_p": null,
"transcript": "ENST00000649995.1",
"protein_id": "ENSP00000497624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.524+255C>T",
"hgvs_p": null,
"transcript": "NM_001301698.2",
"protein_id": "NP_001288627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.524+255C>T",
"hgvs_p": null,
"transcript": "NM_001301699.1",
"protein_id": "NP_001288628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": -4,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1311,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.413+255C>T",
"hgvs_p": null,
"transcript": "ENST00000372259.9",
"protein_id": "ENSP00000361333.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": -4,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1332,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.524+255C>T",
"hgvs_p": null,
"transcript": "NM_001301700.1",
"protein_id": "NP_001288629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1287,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.269+255C>T",
"hgvs_p": null,
"transcript": "ENST00000456170.6",
"protein_id": "ENSP00000390710.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": -4,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1097,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.404+255C>T",
"hgvs_p": null,
"transcript": "ENST00000452396.5",
"protein_id": "ENSP00000396764.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.227+255C>T",
"hgvs_p": null,
"transcript": "NM_001301701.1",
"protein_id": "NP_001288630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "n.894+255C>T",
"hgvs_p": null,
"transcript": "ENST00000495828.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ERI3",
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"hgvs_c": "c.812+255C>T",
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"transcript": "XM_047430139.1",
"protein_id": "XP_047286095.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "ERI3",
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"hgvs_c": "c.752+255C>T",
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"transcript": "XM_017002301.2",
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},
{
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"strand": false,
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],
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"exon_count": 9,
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"gene_symbol": "ERI3",
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"transcript": "XM_047430146.1",
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},
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],
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},
{
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ERI3",
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"hgvs_c": "c.524+255C>T",
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"transcript": "XM_017002303.3",
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},
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],
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "ERI3",
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"hgvs_c": "c.524+255C>T",
"hgvs_p": null,
"transcript": "XM_047430144.1",
"protein_id": "XP_047286100.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"hgvs_c": "c.404+255C>T",
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},
{
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],
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},
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],
"exon_rank": null,
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"gene_symbol": "ERI3",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"hgvs_c": "c.227+255C>T",
"hgvs_p": null,
"transcript": "XM_017002305.2",
"protein_id": "XP_016857794.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ERI3",
"gene_hgnc_id": 17276,
"dbsnp": "rs325143",
"frequency_reference_population": 0.56830716,
"hom_count_reference_population": 26355,
"allele_count_reference_population": 86352,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.568307,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 86352,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 26355,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.119,
"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": "ENST00000372257.7",
"gene_symbol": "ERI3",
"hgnc_id": 17276,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.758+255C>T",
"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
}