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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: 10-93014070-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=93014070&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 93014070,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000260762.10",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2096-124C>A",
"hgvs_p": null,
"transcript": "NM_019053.6",
"protein_id": "NP_061926.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": "ENST00000260762.10",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2096-124C>A",
"hgvs_p": null,
"transcript": "ENST00000260762.10",
"protein_id": "ENSP00000260762.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": "NM_019053.6",
"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": 15,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.1787-124C>A",
"hgvs_p": null,
"transcript": "ENST00000443748.6",
"protein_id": "ENSP00000396206.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3310,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2144-124C>A",
"hgvs_p": null,
"transcript": "NM_001319194.2",
"protein_id": "NP_001306123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": -4,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3811,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2093-124C>A",
"hgvs_p": null,
"transcript": "NM_001319195.2",
"protein_id": "NP_001306124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3561,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2081-124C>A",
"hgvs_p": null,
"transcript": "NM_001013848.4",
"protein_id": "NP_001013870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3675,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2081-124C>A",
"hgvs_p": null,
"transcript": "ENST00000371552.8",
"protein_id": "ENSP00000360607.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3564,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2081-124C>A",
"hgvs_p": null,
"transcript": "ENST00000671701.1",
"protein_id": "ENSP00000500529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3678,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2081-124C>A",
"hgvs_p": null,
"transcript": "ENST00000672817.1",
"protein_id": "ENSP00000500468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2841,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.1787-124C>A",
"hgvs_p": null,
"transcript": "NM_001319200.2",
"protein_id": "NP_001306129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3255,
"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": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.143-124C>A",
"hgvs_p": null,
"transcript": "ENST00000458552.1",
"protein_id": "ENSP00000398982.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 216,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "n.*50-124C>A",
"hgvs_p": null,
"transcript": "ENST00000495132.5",
"protein_id": "ENSP00000435649.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1799,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2141-124C>A",
"hgvs_p": null,
"transcript": "XM_017016344.3",
"protein_id": "XP_016871833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": -4,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
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"cdna_length": 3808,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2081-124C>A",
"hgvs_p": null,
"transcript": "XM_017016345.3",
"protein_id": "XP_016871834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
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"cdna_length": 3711,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2078-124C>A",
"hgvs_p": null,
"transcript": "XM_017016346.3",
"protein_id": "XP_016871835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3708,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2033-124C>A",
"hgvs_p": null,
"transcript": "XM_017016347.3",
"protein_id": "XP_016871836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.1955-124C>A",
"hgvs_p": null,
"transcript": "XM_024448047.2",
"protein_id": "XP_024303815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2144-124C>A",
"hgvs_p": null,
"transcript": "XM_017016348.2",
"protein_id": "XP_016871837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.2141-124C>A",
"hgvs_p": null,
"transcript": "XM_047425369.1",
"protein_id": "XP_047281325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"dbsnp": "rs3736937",
"frequency_reference_population": 0.000001827659,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.00000182766,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.001,
"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": "ENST00000260762.10",
"gene_symbol": "EXOC6",
"hgnc_id": 23196,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2096-124C>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
}