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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: 8-70333055-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=70333055&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 70333055,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_006540.4",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "NM_006540.4",
"protein_id": "NP_006531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000452400.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006540.4"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "ENST00000452400.7",
"protein_id": "ENSP00000399968.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006540.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452400.7"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "NM_001321703.2",
"protein_id": "NP_001308632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321703.2"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "NM_001321707.2",
"protein_id": "NP_001308636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321707.2"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-141-36255C>G",
"hgvs_p": null,
"transcript": "ENST00000892895.1",
"protein_id": "ENSP00000562954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892895.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "ENST00000892896.1",
"protein_id": "ENSP00000562955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892896.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "ENST00000892898.1",
"protein_id": "ENSP00000562957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892898.1"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-149-36255C>G",
"hgvs_p": null,
"transcript": "ENST00000892899.1",
"protein_id": "ENSP00000562958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1464,
"cds_start": null,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892899.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "ENST00000892897.1",
"protein_id": "ENSP00000562956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1439,
"cds_start": null,
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"cds_length": 4320,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892897.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
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"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
"hgvs_p": null,
"transcript": "NM_001321711.2",
"protein_id": "NP_001308640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321711.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.-76-36255C>G",
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"transcript": "NM_001321712.2",
"protein_id": "NP_001308641.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.-434-36255C>G",
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"transcript": "NM_001321713.2",
"protein_id": "NP_001308642.1",
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.-76-36255C>G",
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"transcript": "ENST00000520416.1",
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},
{
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],
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"gene_symbol": "NCOA2",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.-76-36255C>G",
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"transcript": "XM_017012962.3",
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},
{
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],
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},
{
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],
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"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-76-36255C>G",
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"transcript": "XM_017012964.3",
"protein_id": "XP_016868453.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
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"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-141-36255C>G",
"hgvs_p": null,
"transcript": "XM_017012966.3",
"protein_id": "XP_016868455.1",
"transcript_support_level": null,
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},
{
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],
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},
{
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],
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"gene_symbol": "NCOA2",
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},
{
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],
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"gene_symbol": "NCOA2",
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"hgvs_c": "c.-141-36255C>G",
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"transcript": "XM_047421232.1",
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"biotype": "protein_coding",
"feature": "XM_047421232.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.-196-36255C>G",
"hgvs_p": null,
"transcript": "XM_047421233.1",
"protein_id": "XP_047277189.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.024,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_006540.4",
"gene_symbol": "NCOA2",
"hgnc_id": 7669,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-76-36255C>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
}