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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: 12-51770620-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51770620&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51770620,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000354534.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "NM_001330260.2",
"protein_id": "NP_001317189.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1980,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": "ENST00000627620.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "NM_014191.4",
"protein_id": "NP_055006.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1980,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": "ENST00000354534.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "ENST00000354534.11",
"protein_id": "ENSP00000346534.4",
"transcript_support_level": 1,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1980,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": null,
"mane_plus": "NM_014191.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "ENST00000627620.5",
"protein_id": "ENSP00000487583.2",
"transcript_support_level": 5,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1980,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 11559,
"mane_select": "NM_001330260.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3615C>T",
"hgvs_p": "p.Ile1205Ile",
"transcript": "ENST00000599343.5",
"protein_id": "ENSP00000476447.3",
"transcript_support_level": 5,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1991,
"cds_start": 3615,
"cds_end": null,
"cds_length": 5976,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "ENST00000355133.7",
"protein_id": "ENSP00000347255.4",
"transcript_support_level": 1,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3582,
"cdna_end": null,
"cdna_length": 5820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "ENST00000662684.1",
"protein_id": "ENSP00000499636.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1980,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5943,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 6930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "NM_001177984.3",
"protein_id": "NP_001171455.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 11436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "NM_001369788.1",
"protein_id": "NP_001356717.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 11436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "ENST00000545061.5",
"protein_id": "ENSP00000440360.1",
"transcript_support_level": 5,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3760,
"cdna_end": null,
"cdna_length": 11433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "c.3582C>T",
"hgvs_p": "p.Ile1194Ile",
"transcript": "ENST00000668547.1",
"protein_id": "ENSP00000499691.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3582,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3763,
"cdna_end": null,
"cdna_length": 6876,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.1428C>T",
"hgvs_p": null,
"transcript": "ENST00000548086.3",
"protein_id": "ENSP00000499511.1",
"transcript_support_level": 5,
"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": 2075,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.*684C>T",
"hgvs_p": null,
"transcript": "ENST00000636945.2",
"protein_id": "ENSP00000490580.1",
"transcript_support_level": 5,
"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": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.*684C>T",
"hgvs_p": null,
"transcript": "ENST00000636945.2",
"protein_id": "ENSP00000490580.1",
"transcript_support_level": 5,
"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": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"hgvs_c": "n.*241C>T",
"hgvs_p": null,
"transcript": "ENST00000636458.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN8A",
"gene_hgnc_id": 10596,
"dbsnp": "rs756909923",
"frequency_reference_population": 0.000033455923,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.00002531,
"gnomad_genomes_af": 0.000111701,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"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": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.955,
"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.3582C>T",
"hgvs_p": "p.Ile1194Ile"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Developmental and epileptic encephalopathy|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}