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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: 6-145891202-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=145891202&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 145891202,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000275233.12",
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4874+2013A>G",
"hgvs_p": null,
"transcript": "NM_001042683.3",
"protein_id": "NP_001036148.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1683,
"cds_start": -4,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7596,
"mane_select": "ENST00000275233.12",
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4874+2013A>G",
"hgvs_p": null,
"transcript": "ENST00000275233.12",
"protein_id": "ENSP00000275233.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1683,
"cds_start": -4,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7596,
"mane_select": "NM_001042683.3",
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4886+2013A>G",
"hgvs_p": null,
"transcript": "ENST00000438092.6",
"protein_id": "ENSP00000412797.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1659,
"cds_start": -4,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6994,
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4886+2013A>G",
"hgvs_p": null,
"transcript": "ENST00000629427.2",
"protein_id": "ENSP00000486723.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7338,
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4874+2013A>G",
"hgvs_p": null,
"transcript": "NM_001370327.1",
"protein_id": "NP_001357256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1683,
"cds_start": -4,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7170,
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4874+2013A>G",
"hgvs_p": null,
"transcript": "ENST00000367505.6",
"protein_id": "ENSP00000356475.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1683,
"cds_start": -4,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7201,
"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": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4886+2013A>G",
"hgvs_p": null,
"transcript": "NM_173082.4",
"protein_id": "NP_775105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1659,
"cds_start": -4,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
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"cdna_length": 7261,
"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": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.3431+2013A>G",
"hgvs_p": null,
"transcript": "NM_001370328.1",
"protein_id": "NP_001357257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6754,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.140+2013A>G",
"hgvs_p": null,
"transcript": "ENST00000417762.5",
"protein_id": "ENSP00000403790.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "EPM2A-DT",
"gene_hgnc_id": 48990,
"hgvs_c": "n.662-19254T>C",
"hgvs_p": null,
"transcript": "ENST00000805026.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1171,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EPM2A-DT",
"gene_hgnc_id": 48990,
"hgvs_c": "n.835+7771T>C",
"hgvs_p": null,
"transcript": "ENST00000805027.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SHPRH",
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"hgvs_c": "c.4874+2013A>G",
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"transcript": "XM_047418600.1",
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},
{
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],
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},
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],
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"gene_symbol": "SHPRH",
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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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"gene_symbol": "SHPRH",
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"hgvs_c": "c.4874+2013A>G",
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"transcript": "XM_011535719.4",
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},
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],
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],
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"intron_rank": 27,
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"gene_symbol": "SHPRH",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 27,
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"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.4929+2948A>G",
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"transcript": "XR_942393.4",
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"feature": null
}
],
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"dbsnp": "rs2265477",
"frequency_reference_population": 0.47358623,
"hom_count_reference_population": 17499,
"allele_count_reference_population": 71987,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.473586,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 71987,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 17499,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.271,
"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": "ENST00000275233.12",
"gene_symbol": "SHPRH",
"hgnc_id": 19336,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4874+2013A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000805026.1",
"gene_symbol": "EPM2A-DT",
"hgnc_id": 48990,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.662-19254T>C",
"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
}