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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: 14-24305686-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24305686&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CIDEB",
"hgnc_id": 1977,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_014430.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "NOP9",
"hgnc_id": 19826,
"hgvs_c": "c.*591C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_174913.3",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LTB4R2",
"hgnc_id": 19260,
"hgvs_c": "c.-277C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000527924.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 289,
"alphamissense_prediction": null,
"alphamissense_score": 0.6505,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0985230803489685,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 726,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393339.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000554411.6",
"protein_coding": true,
"protein_id": "NP_001380268.1",
"strand": false,
"transcript": "NM_001393339.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 726,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000554411.6",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393339.1",
"protein_coding": true,
"protein_id": "ENSP00000451089.1",
"strand": false,
"transcript": "ENST00000554411.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000258807.5",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258807.5",
"strand": false,
"transcript": "ENST00000258807.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6045,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_174913.3",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.*591C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267425.8",
"protein_coding": true,
"protein_id": "NP_777573.1",
"strand": true,
"transcript": "NM_174913.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6045,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000267425.8",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.*591C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_174913.3",
"protein_coding": true,
"protein_id": "ENSP00000267425.3",
"strand": true,
"transcript": "ENST00000267425.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 223,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 898,
"cds_end": null,
"cds_length": 672,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885649.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Ala207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555708.1",
"strand": false,
"transcript": "ENST00000885649.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 223,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 672,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000967605.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Ala207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637664.1",
"strand": false,
"transcript": "ENST00000967605.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318807.3",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305736.1",
"strand": false,
"transcript": "NM_001318807.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 3526,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393334.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380263.1",
"strand": false,
"transcript": "NM_001393334.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393335.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380264.1",
"strand": false,
"transcript": "NM_001393335.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001393336.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380265.1",
"strand": false,
"transcript": "NM_001393336.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393337.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380266.1",
"strand": false,
"transcript": "NM_001393337.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001393338.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380267.1",
"strand": false,
"transcript": "NM_001393338.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_014430.4",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055245.2",
"strand": false,
"transcript": "NM_014430.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000336557.9",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337731.5",
"strand": false,
"transcript": "ENST00000336557.9",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885634.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555693.1",
"strand": false,
"transcript": "ENST00000885634.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885635.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555694.1",
"strand": false,
"transcript": "ENST00000885635.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885636.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555695.1",
"strand": false,
"transcript": "ENST00000885636.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000885637.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555696.1",
"strand": false,
"transcript": "ENST00000885637.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 219,
"aa_ref": "A",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 660,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885638.1",
"gene_hgnc_id": 1977,
"gene_symbol": "CIDEB",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Ala203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555697.1",
"strand": false,
"transcript": "ENST00000885638.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000527924.6",
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"protein_coding": true,
"protein_id": "ENSP00000436668.2",
"strand": true,
"transcript": "ENST00000527924.6",
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}
],
"custom_annotations": null,
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"dbscsnv_ada_score": null,
"dbsnp": "rs371144775",
"effect": "missense_variant",
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"gene_hgnc_id": 1977,
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
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"pos": 24305686,
"ref": "C",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}