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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: 19-38572212-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38572212&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38572212,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000540.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13940T>C",
"hgvs_p": "p.Leu4647Pro",
"transcript": "NM_000540.3",
"protein_id": "NP_000531.2",
"transcript_support_level": null,
"aa_start": 4647,
"aa_end": null,
"aa_length": 5038,
"cds_start": 13940,
"cds_end": null,
"cds_length": 15117,
"cdna_start": 14079,
"cdna_end": null,
"cdna_length": 15400,
"mane_select": "ENST00000359596.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13940T>C",
"hgvs_p": "p.Leu4647Pro",
"transcript": "ENST00000359596.8",
"protein_id": "ENSP00000352608.2",
"transcript_support_level": 5,
"aa_start": 4647,
"aa_end": null,
"aa_length": 5038,
"cds_start": 13940,
"cds_end": null,
"cds_length": 15117,
"cdna_start": 14079,
"cdna_end": null,
"cdna_length": 15400,
"mane_select": "NM_000540.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13925T>C",
"hgvs_p": "p.Leu4642Pro",
"transcript": "ENST00000355481.8",
"protein_id": "ENSP00000347667.3",
"transcript_support_level": 1,
"aa_start": 4642,
"aa_end": null,
"aa_length": 5033,
"cds_start": 13925,
"cds_end": null,
"cds_length": 15102,
"cdna_start": 14056,
"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": 92,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*4650T>C",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*4650T>C",
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13925T>C",
"hgvs_p": "p.Leu4642Pro",
"transcript": "NM_001042723.2",
"protein_id": "NP_001036188.1",
"transcript_support_level": null,
"aa_start": 4642,
"aa_end": null,
"aa_length": 5033,
"cds_start": 13925,
"cds_end": null,
"cds_length": 15102,
"cdna_start": 14064,
"cdna_end": null,
"cdna_length": 15385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13853T>C",
"hgvs_p": "p.Leu4618Pro",
"transcript": "ENST00000689936.2",
"protein_id": "ENSP00000508999.2",
"transcript_support_level": null,
"aa_start": 4618,
"aa_end": null,
"aa_length": 5009,
"cds_start": 13853,
"cds_end": null,
"cds_length": 15030,
"cdna_start": 13992,
"cdna_end": null,
"cdna_length": 15169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13805T>C",
"hgvs_p": "p.Leu4602Pro",
"transcript": "ENST00000713953.1",
"protein_id": "ENSP00000519246.1",
"transcript_support_level": null,
"aa_start": 4602,
"aa_end": null,
"aa_length": 4993,
"cds_start": 13805,
"cds_end": null,
"cds_length": 14982,
"cdna_start": 13936,
"cdna_end": null,
"cdna_length": 15257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13607T>C",
"hgvs_p": "p.Leu4536Pro",
"transcript": "ENST00000713952.1",
"protein_id": "ENSP00000519245.1",
"transcript_support_level": null,
"aa_start": 4536,
"aa_end": null,
"aa_length": 4927,
"cds_start": 13607,
"cds_end": null,
"cds_length": 14784,
"cdna_start": 13746,
"cdna_end": null,
"cdna_length": 15067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13922T>C",
"hgvs_p": "p.Leu4641Pro",
"transcript": "XM_006723317.3",
"protein_id": "XP_006723380.1",
"transcript_support_level": null,
"aa_start": 4641,
"aa_end": null,
"aa_length": 5032,
"cds_start": 13922,
"cds_end": null,
"cds_length": 15099,
"cdna_start": 14061,
"cdna_end": null,
"cdna_length": 15382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13907T>C",
"hgvs_p": "p.Leu4636Pro",
"transcript": "XM_006723319.3",
"protein_id": "XP_006723382.1",
"transcript_support_level": null,
"aa_start": 4636,
"aa_end": null,
"aa_length": 5027,
"cds_start": 13907,
"cds_end": null,
"cds_length": 15084,
"cdna_start": 14046,
"cdna_end": null,
"cdna_length": 15367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "c.13853T>C",
"hgvs_p": "p.Leu4618Pro",
"transcript": "XM_011527205.3",
"protein_id": "XP_011525507.1",
"transcript_support_level": null,
"aa_start": 4618,
"aa_end": null,
"aa_length": 5009,
"cds_start": 13853,
"cds_end": null,
"cds_length": 15030,
"cdna_start": 13992,
"cdna_end": null,
"cdna_length": 15313,
"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": 93,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*2310T>C",
"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": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*4699T>C",
"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": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*195T>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*2310T>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*4699T>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR1",
"gene_hgnc_id": 10483,
"hgvs_c": "n.*195T>C",
"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": "rs1555801902",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9945992231369019,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.948,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.991,
"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": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000540.3",
"gene_symbol": "RYR1",
"hgnc_id": 10483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.13940T>C",
"hgvs_p": "p.Leu4647Pro"
}
],
"clinvar_disease": "RYR1-related disorder",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "RYR1-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}