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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: 19-38499993-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38499993&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38499993,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359596.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "NM_000540.3",
"protein_id": "NP_000531.2",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5038,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15117,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15400,
"mane_select": "ENST00000359596.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "ENST00000359596.8",
"protein_id": "ENSP00000352608.2",
"transcript_support_level": 5,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5038,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15117,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15400,
"mane_select": "NM_000540.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "ENST00000355481.8",
"protein_id": "ENSP00000347667.3",
"transcript_support_level": 1,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5033,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15102,
"cdna_start": 7431,
"cdna_end": null,
"cdna_length": 15377,
"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": 45,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7300G>A",
"hgvs_p": null,
"transcript": "ENST00000594335.6",
"protein_id": "ENSP00000470927.2",
"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": 15347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "NM_001042723.2",
"protein_id": "NP_001036188.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5033,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15102,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "ENST00000689936.2",
"protein_id": "ENSP00000508999.2",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5009,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15030,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7180G>A",
"hgvs_p": "p.Gly2394Arg",
"transcript": "ENST00000713953.1",
"protein_id": "ENSP00000519246.1",
"transcript_support_level": null,
"aa_start": 2394,
"aa_end": null,
"aa_length": 4993,
"cds_start": 7180,
"cds_end": null,
"cds_length": 14982,
"cdna_start": 7311,
"cdna_end": null,
"cdna_length": 15257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "ENST00000713952.1",
"protein_id": "ENSP00000519245.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 4927,
"cds_start": 7300,
"cds_end": null,
"cds_length": 14784,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "XM_006723317.3",
"protein_id": "XP_006723380.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5032,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15099,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "XM_006723319.3",
"protein_id": "XP_006723382.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5027,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15084,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "XM_011527205.3",
"protein_id": "XP_011525507.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 5009,
"cds_start": 7300,
"cds_end": null,
"cds_length": 15030,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 15313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg",
"transcript": "XM_047439202.1",
"protein_id": "XP_047295158.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 3068,
"cds_start": 7300,
"cds_end": null,
"cds_length": 9207,
"cdna_start": 7439,
"cdna_end": null,
"cdna_length": 9561,
"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": 45,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7300G>A",
"hgvs_p": null,
"transcript": "ENST00000593322.2",
"protein_id": "ENSP00000471404.2",
"transcript_support_level": 2,
"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": 15308,
"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": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7300G>A",
"hgvs_p": null,
"transcript": "ENST00000599547.7",
"protein_id": "ENSP00000471601.2",
"transcript_support_level": 2,
"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": 15200,
"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": 45,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7300G>A",
"hgvs_p": null,
"transcript": "ENST00000688602.2",
"protein_id": "ENSP00000510767.2",
"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": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"dbsnp": "rs121918593",
"frequency_reference_population": 0.00009665403,
"hom_count_reference_population": 0,
"allele_count_reference_population": 156,
"gnomad_exomes_af": 0.000101244,
"gnomad_genomes_af": 0.0000525679,
"gnomad_exomes_ac": 148,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.956633448600769,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.965,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.982,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS4,PS3,BS2,PM1,PP1_Strong,PP3_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 4,
"pathogenic_score": 16,
"criteria": [
"PS4",
"PS3",
"BS2",
"PM1",
"PP1_Strong",
"PP3_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000359596.8",
"gene_symbol": "RYR1",
"hgnc_id": 10483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7300G>A",
"hgvs_p": "p.Gly2434Arg"
}
],
"clinvar_disease": " 1, susceptibility to,Central core myopathy,Congenital multicore myopathy with external ophthalmoplegia,Inborn genetic diseases,King Denborough syndrome,Malignant hyperthermia,Malignant hyperthermia of anesthesia,RYR1-related disorder,desflurane response - Toxicity,enflurane response - Toxicity,halothane response - Toxicity,isoflurane response - Toxicity,methoxyflurane response - Toxicity,not provided,sevoflurane response - Toxicity,succinylcholine response - Toxicity",
"clinvar_classification": " drug response,Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:27 O:8",
"phenotype_combined": "Malignant hyperthermia, susceptibility to, 1|not provided|RYR1-related disorder|Malignant hyperthermia of anesthesia|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|succinylcholine response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|Central core myopathy|Inborn genetic diseases|King Denborough syndrome;Malignant hyperthermia, susceptibility to, 1;Congenital multicore myopathy with external ophthalmoplegia;Central core myopathy",
"pathogenicity_classification_combined": "Pathogenic; drug response",
"custom_annotations": null
}
],
"message": null
}