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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: 11-123642563-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123642563&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123642563,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018400.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "NM_001040151.2",
"protein_id": "NP_001035241.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299333.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040151.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000299333.8",
"protein_id": "ENSP00000299333.3",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040151.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299333.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000392770.6",
"protein_id": "ENSP00000376523.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392770.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000530277.5",
"protein_id": "ENSP00000432785.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530277.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000950700.1",
"protein_id": "ENSP00000620759.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 237,
"cds_start": 328,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950700.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "NM_018400.4",
"protein_id": "NP_060870.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018400.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000657123.1",
"protein_id": "ENSP00000499439.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657123.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000657191.1",
"protein_id": "ENSP00000499755.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657191.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000851381.1",
"protein_id": "ENSP00000521440.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851381.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000851382.1",
"protein_id": "ENSP00000521441.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851382.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000851385.1",
"protein_id": "ENSP00000521444.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851385.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "ENST00000950698.1",
"protein_id": "ENSP00000620757.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950698.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"transcript": "XM_011542897.3",
"protein_id": "XP_011541199.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 215,
"cds_start": 328,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542897.3"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.56-4239G>A",
"hgvs_p": null,
"transcript": "ENST00000851383.1",
"protein_id": "ENSP00000521442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851383.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.56-4239G>A",
"hgvs_p": null,
"transcript": "ENST00000851384.1",
"protein_id": "ENSP00000521443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851384.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "c.56-4239G>A",
"hgvs_p": null,
"transcript": "ENST00000950699.1",
"protein_id": "ENSP00000620758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "n.22G>A",
"hgvs_p": null,
"transcript": "ENST00000659826.1",
"protein_id": "ENSP00000499518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000659826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"hgvs_c": "n.328G>A",
"hgvs_p": null,
"transcript": "ENST00000667790.1",
"protein_id": "ENSP00000499234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000667790.1"
}
],
"gene_symbol": "SCN3B",
"gene_hgnc_id": 20665,
"dbsnp": "rs147205617",
"frequency_reference_population": 0.00022054979,
"hom_count_reference_population": 4,
"allele_count_reference_population": 356,
"gnomad_exomes_af": 0.000210689,
"gnomad_genomes_af": 0.000315213,
"gnomad_exomes_ac": 308,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030202001333236694,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.383,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.491,
"phylop100way_prediction": "Uncertain_significance",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018400.4",
"gene_symbol": "SCN3B",
"hgnc_id": 20665,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile"
}
],
"clinvar_disease": "Brugada syndrome 7,Cardiomyopathy,Cardiovascular phenotype,Death in infancy,SCN3B-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:5",
"phenotype_combined": "not provided|not specified|Death in infancy|Cardiovascular phenotype|Cardiomyopathy|Brugada syndrome 7|SCN3B-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}