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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: 19-38433836-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38433836&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38433836,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000540.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "NM_000540.3",
"protein_id": "NP_000531.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 5038,
"cds_start": 7,
"cds_end": null,
"cds_length": 15117,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15400,
"mane_select": "ENST00000359596.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "ENST00000359596.8",
"protein_id": "ENSP00000352608.2",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 5038,
"cds_start": 7,
"cds_end": null,
"cds_length": 15117,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15400,
"mane_select": "NM_000540.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "ENST00000355481.8",
"protein_id": "ENSP00000347667.3",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 5033,
"cds_start": 7,
"cds_end": null,
"cds_length": 15102,
"cdna_start": 138,
"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": 1,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7G>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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "NM_001042723.2",
"protein_id": "NP_001036188.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 5033,
"cds_start": 7,
"cds_end": null,
"cds_length": 15102,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "ENST00000689936.2",
"protein_id": "ENSP00000508999.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 5009,
"cds_start": 7,
"cds_end": null,
"cds_length": 15030,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "ENST00000713953.1",
"protein_id": "ENSP00000519246.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 4993,
"cds_start": 7,
"cds_end": null,
"cds_length": 14982,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 15257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "ENST00000713952.1",
"protein_id": "ENSP00000519245.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 4927,
"cds_start": 7,
"cds_end": null,
"cds_length": 14784,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "XM_006723317.3",
"protein_id": "XP_006723380.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 5032,
"cds_start": 7,
"cds_end": null,
"cds_length": 15099,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "XM_006723319.3",
"protein_id": "XP_006723382.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 5027,
"cds_start": 7,
"cds_end": null,
"cds_length": 15084,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "XM_011527205.3",
"protein_id": "XP_011525507.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 5009,
"cds_start": 7,
"cds_end": null,
"cds_length": 15030,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 15313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn",
"transcript": "XM_047439202.1",
"protein_id": "XP_047295158.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 3068,
"cds_start": 7,
"cds_end": null,
"cds_length": 9207,
"cdna_start": 146,
"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": 1,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7G>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": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7G>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": 1,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.7G>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": null,
"frequency_reference_population": 0.0000013682754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136828,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40640294551849365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1426,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.212,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000540.3",
"gene_symbol": "RYR1",
"hgnc_id": 10483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Asp3Asn"
}
],
"clinvar_disease": " 1, susceptibility to,Malignant hyperthermia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Malignant hyperthermia, susceptibility to, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}