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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: 1-237784183-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237784183&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"hgvs_c": "c.12471A>G",
"hgvs_p": "p.Arg4157Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001035.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000296715",
"hgnc_id": null,
"hgvs_c": "n.633T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -10,
"transcript": "ENST00000741291.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia,Catecholaminergic polymorphic ventricular tachycardia 1",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "R",
"aa_start": 4157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 12809,
"cds_end": null,
"cds_length": 14904,
"cds_start": 12471,
"consequences": [
"synonymous_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "NM_001035.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12471A>G",
"hgvs_p": "p.Arg4157Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366574.7",
"protein_coding": true,
"protein_id": "NP_001026.2",
"strand": true,
"transcript": "NM_001035.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "R",
"aa_start": 4157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 12809,
"cds_end": null,
"cds_length": 14904,
"cds_start": 12471,
"consequences": [
"synonymous_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000366574.7",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12471A>G",
"hgvs_p": "p.Arg4157Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001035.3",
"protein_coding": true,
"protein_id": "ENSP00000355533.2",
"strand": true,
"transcript": "ENST00000366574.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "R",
"aa_start": 4165,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12833,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12495,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000661330.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12495A>G",
"hgvs_p": "p.Arg4165Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499393.2",
"strand": true,
"transcript": "ENST00000661330.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 16525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "ENST00000609119.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "n.*3563A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499659.2",
"strand": true,
"transcript": "ENST00000609119.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 16525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "ENST00000609119.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "n.*3563A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499659.2",
"strand": true,
"transcript": "ENST00000609119.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "R",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 12830,
"cds_end": null,
"cds_length": 14925,
"cds_start": 12492,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000660292.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12492A>G",
"hgvs_p": "p.Arg4164Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499787.2",
"strand": true,
"transcript": "ENST00000660292.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "R",
"aa_start": 4163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12827,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12489,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000714021.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12489A>G",
"hgvs_p": "p.Arg4163Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519311.1",
"strand": true,
"transcript": "ENST00000714021.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4961,
"aa_ref": "R",
"aa_start": 4153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16565,
"cdna_start": 12797,
"cds_end": null,
"cds_length": 14886,
"cds_start": 12459,
"consequences": [
"synonymous_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000659194.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12459A>G",
"hgvs_p": "p.Arg4153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499653.3",
"strand": true,
"transcript": "ENST00000659194.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4955,
"aa_ref": "R",
"aa_start": 4145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16547,
"cdna_start": 12773,
"cds_end": null,
"cds_length": 14868,
"cds_start": 12435,
"consequences": [
"synonymous_variant"
],
"exon_count": 103,
"exon_rank": 88,
"exon_rank_end": null,
"feature": "ENST00000714019.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12435A>G",
"hgvs_p": "p.Arg4145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519309.1",
"strand": true,
"transcript": "ENST00000714019.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4930,
"aa_ref": "R",
"aa_start": 4120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16472,
"cdna_start": 12698,
"cds_end": null,
"cds_length": 14793,
"cds_start": 12360,
"consequences": [
"synonymous_variant"
],
"exon_count": 102,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "ENST00000714018.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12360A>G",
"hgvs_p": "p.Arg4120Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519308.1",
"strand": true,
"transcript": "ENST00000714018.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4312,
"aa_ref": "R",
"aa_start": 3502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14712,
"cdna_start": 10938,
"cds_end": null,
"cds_length": 12939,
"cds_start": 10506,
"consequences": [
"synonymous_variant"
],
"exon_count": 89,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000714022.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.10506A>G",
"hgvs_p": "p.Arg3502Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519312.1",
"strand": true,
"transcript": "ENST00000714022.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4985,
"aa_ref": "R",
"aa_start": 4175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16637,
"cdna_start": 12863,
"cds_end": null,
"cds_length": 14958,
"cds_start": 12525,
"consequences": [
"synonymous_variant"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711802.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12525A>G",
"hgvs_p": "p.Arg4175Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711865.1",
"strand": true,
"transcript": "XM_006711802.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4984,
"aa_ref": "R",
"aa_start": 4174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16634,
"cdna_start": 12860,
"cds_end": null,
"cds_length": 14955,
"cds_start": 12522,
"consequences": [
"synonymous_variant"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711803.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12522A>G",
"hgvs_p": "p.Arg4174Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711866.1",
"strand": true,
"transcript": "XM_006711803.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4978,
"aa_ref": "R",
"aa_start": 4168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16616,
"cdna_start": 12842,
"cds_end": null,
"cds_length": 14937,
"cds_start": 12504,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_017002028.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12504A>G",
"hgvs_p": "p.Arg4168Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857517.1",
"strand": true,
"transcript": "XM_017002028.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4977,
"aa_ref": "R",
"aa_start": 4167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16613,
"cdna_start": 12839,
"cds_end": null,
"cds_length": 14934,
"cds_start": 12501,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711804.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12501A>G",
"hgvs_p": "p.Arg4167Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711867.1",
"strand": true,
"transcript": "XM_006711804.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4975,
"aa_ref": "R",
"aa_start": 4165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16607,
"cdna_start": 12833,
"cds_end": null,
"cds_length": 14928,
"cds_start": 12495,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711805.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12495A>G",
"hgvs_p": "p.Arg4165Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711868.1",
"strand": true,
"transcript": "XM_006711805.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "R",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 12830,
"cds_end": null,
"cds_length": 14925,
"cds_start": 12492,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_047427317.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12492A>G",
"hgvs_p": "p.Arg4164Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283273.1",
"strand": true,
"transcript": "XM_047427317.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "R",
"aa_start": 4163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12827,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12489,
"consequences": [
"synonymous_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711806.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12489A>G",
"hgvs_p": "p.Arg4163Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711869.1",
"strand": true,
"transcript": "XM_006711806.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4965,
"aa_ref": "R",
"aa_start": 4155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16577,
"cdna_start": 12803,
"cds_end": null,
"cds_length": 14898,
"cds_start": 12465,
"consequences": [
"synonymous_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_006711807.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12465A>G",
"hgvs_p": "p.Arg4155Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711870.1",
"strand": true,
"transcript": "XM_006711807.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4954,
"aa_ref": "R",
"aa_start": 4144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16544,
"cdna_start": 12770,
"cds_end": null,
"cds_length": 14865,
"cds_start": 12432,
"consequences": [
"synonymous_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_006711810.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12432A>G",
"hgvs_p": "p.Arg4144Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711873.1",
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