← 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: 1-201091983-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201091983&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201091983,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000362061.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "NM_000069.3",
"protein_id": "NP_000060.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 1873,
"cds_start": 530,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": "ENST00000362061.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "ENST00000362061.4",
"protein_id": "ENSP00000355192.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 1873,
"cds_start": 530,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": "NM_000069.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "ENST00000367338.7",
"protein_id": "ENSP00000356307.3",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 1854,
"cds_start": 530,
"cds_end": null,
"cds_length": 5565,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "ENST00000681874.1",
"protein_id": "ENSP00000505162.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 1853,
"cds_start": 530,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 5968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "XM_005245478.4",
"protein_id": "XP_005245535.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 1854,
"cds_start": 530,
"cds_end": null,
"cds_length": 5565,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000679417.1",
"protein_id": "ENSP00000506706.1",
"transcript_support_level": null,
"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": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000680059.1",
"protein_id": "ENSP00000504944.1",
"transcript_support_level": null,
"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": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000681078.1",
"protein_id": "ENSP00000506645.1",
"transcript_support_level": null,
"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": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000681190.1",
"protein_id": "ENSP00000506428.1",
"transcript_support_level": null,
"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": 6077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.530C>T",
"hgvs_p": null,
"transcript": "ENST00000713699.1",
"protein_id": "ENSP00000519003.1",
"transcript_support_level": null,
"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": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"dbsnp": "rs141204958",
"frequency_reference_population": 0.00042809916,
"hom_count_reference_population": 1,
"allele_count_reference_population": 691,
"gnomad_exomes_af": 0.000441907,
"gnomad_genomes_af": 0.000295535,
"gnomad_exomes_ac": 646,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6808487772941589,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.897,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.487,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000362061.4",
"gene_symbol": "CACNA1S",
"hgnc_id": 1397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu"
}
],
"clinvar_disease": " 1, 5, susceptibility to, type 1,Congenital myopathy 18,Hypokalemic periodic paralysis,Long QT syndrome,Malignant hyperthermia,Malignant hyperthermia of anesthesia,Thyrotoxic periodic paralysis,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:3 B:1",
"phenotype_combined": "Malignant hyperthermia of anesthesia|not specified|Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|not provided|Long QT syndrome|Congenital myopathy 18;Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1|Hypokalemic periodic paralysis, type 1;Thyrotoxic periodic paralysis, susceptibility to, 1|Malignant hyperthermia, susceptibility to, 5",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}