← Back to variant description
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: 12-51706589-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51706589&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51706589,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000354534.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "NM_001330260.2",
"protein_id": "NP_001317189.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1980,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": "ENST00000627620.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "NM_014191.4",
"protein_id": "NP_055006.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1980,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": "ENST00000354534.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000354534.11",
"protein_id": "ENSP00000346534.4",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 1980,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": "NM_014191.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000627620.5",
"protein_id": "ENSP00000487583.2",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 1980,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": "NM_001330260.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000599343.5",
"protein_id": "ENSP00000476447.3",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 1991,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5976,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000355133.7",
"protein_id": "ENSP00000347255.4",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 1939,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Leu353Leu",
"transcript": "ENST00000551216.2",
"protein_id": "ENSP00000447567.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 541,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1627,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.1637C>A",
"hgvs_p": null,
"transcript": "ENST00000550891.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000662684.1",
"protein_id": "ENSP00000499636.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1980,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 6930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "NM_001177984.3",
"protein_id": "NP_001171455.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1939,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 11436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "NM_001369788.1",
"protein_id": "NP_001356717.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1939,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 11436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000545061.5",
"protein_id": "ENSP00000440360.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 1939,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 11433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000668547.1",
"protein_id": "ENSP00000499691.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1939,
"cds_start": 1509,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 6876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000638820.1",
"protein_id": "ENSP00000492157.1",
"transcript_support_level": 5,
"aa_start": 503,
"aa_end": null,
"aa_length": 759,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu",
"transcript": "ENST00000667214.1",
"protein_id": "ENSP00000499724.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 759,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"dbsnp": "rs376749872",
"frequency_reference_population": 0.000055944543,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000535544,
"gnomad_genomes_af": 0.0000788053,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"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": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.813,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000354534.11",
"gene_symbol": "SCN8A",
"hgnc_id": 10596,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Leu503Leu"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}