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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: 10-18539443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18539443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNB2",
"hgnc_id": 1402,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Val568Ile",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_201596.3",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CACNB2-AS1",
"hgnc_id": 58168,
"hgvs_c": "n.377-144C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "ENST00000425669.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 428,
"alphamissense_prediction": null,
"alphamissense_score": 0.0638,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "10",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Brugada syndrome 4,Cardiomyopathy,Cardiovascular phenotype,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.015302777290344238,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 660,
"aa_ref": "V",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_201596.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Val568Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324631.13",
"protein_coding": true,
"protein_id": "NP_963890.2",
"strand": true,
"transcript": "NM_201596.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 660,
"aa_ref": "V",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000324631.13",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Val568Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201596.3",
"protein_coding": true,
"protein_id": "ENSP00000320025.8",
"strand": true,
"transcript": "ENST00000324631.13",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 606,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_201590.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000377329.10",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963884.2",
"strand": true,
"transcript": "NM_201590.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 606,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000377329.10",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_201590.3",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366546.4",
"strand": true,
"transcript": "ENST00000377329.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 636,
"aa_ref": "V",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1630,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000352115.10",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344474.6",
"strand": true,
"transcript": "ENST00000352115.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 632,
"aa_ref": "V",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000282343.13",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000282343.8",
"strand": true,
"transcript": "ENST00000282343.13",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "V",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000377315.6",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366532.4",
"strand": true,
"transcript": "ENST00000377315.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 605,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4464,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000396576.6",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379821.2",
"strand": true,
"transcript": "ENST00000396576.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 567,
"aa_ref": "V",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6085,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000377319.9",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366536.3",
"strand": true,
"transcript": "ENST00000377319.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 528,
"aa_ref": "V",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1589,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000377331.8",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Val443Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366548.4",
"strand": true,
"transcript": "ENST00000377331.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1233,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000377328.5",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366545.1",
"strand": true,
"transcript": "ENST00000377328.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425669.1",
"gene_hgnc_id": 58168,
"gene_symbol": "CACNB2-AS1",
"hgvs_c": "n.377-144C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000425669.1",
"transcript_support_level": 1
},
{
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"aa_length": 636,
"aa_ref": "V",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6057,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1630,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_201597.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963891.1",
"strand": true,
"transcript": "NM_201597.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 632,
"aa_ref": "V",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6488,
"cdna_start": 2374,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_201571.4",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Val540Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963865.2",
"strand": true,
"transcript": "NM_201571.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 622,
"aa_ref": "V",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_201593.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Val530Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963887.2",
"strand": true,
"transcript": "NM_201593.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "V",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_201570.3",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Val520Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963864.1",
"strand": true,
"transcript": "NM_201570.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 608,
"aa_ref": "V",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6416,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_201572.4",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Val516Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963866.2",
"strand": true,
"transcript": "NM_201572.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 608,
"aa_ref": "V",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6104,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645287.2",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Val516Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496203.1",
"strand": true,
"transcript": "ENST00000645287.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 605,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6199,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000724.4",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000715.2",
"strand": true,
"transcript": "NM_000724.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 600,
"aa_ref": "V",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000652391.1",
"gene_hgnc_id": 1402,
"gene_symbol": "CACNB2",
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Val508Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498938.1",
"strand": true,
"transcript": "ENST00000652391.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 594,
"aa_ref": "V",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"gnomad_exomes_ac": 392,
"gnomad_exomes_af": 0.000268152,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 36,
"gnomad_genomes_af": 0.000236839,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Brugada syndrome 4|Cardiomyopathy|Cardiovascular phenotype|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.075,
"pos": 18539443,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.16,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_201596.3"
}
]
}