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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: 15-33865198-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33865198&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"hgvs_c": "c.14585G>A",
"hgvs_p": "p.Arg4862His",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001036.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AVEN",
"hgnc_id": 13509,
"hgvs_c": "n.2511-223C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000675287.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 51,
"alphamissense_prediction": null,
"alphamissense_score": 0.9149,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Epileptic encephalopathy,See cases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8984997272491455,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4870,
"aa_ref": "R",
"aa_start": 4862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15568,
"cdna_start": 14664,
"cds_end": null,
"cds_length": 14613,
"cds_start": 14585,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 104,
"exon_rank_end": null,
"feature": "NM_001036.6",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14585G>A",
"hgvs_p": "p.Arg4862His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000634891.2",
"protein_coding": true,
"protein_id": "NP_001027.3",
"strand": true,
"transcript": "NM_001036.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4870,
"aa_ref": "R",
"aa_start": 4862,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15568,
"cdna_start": 14664,
"cds_end": null,
"cds_length": 14613,
"cds_start": 14585,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 104,
"exon_rank_end": null,
"feature": "ENST00000634891.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14585G>A",
"hgvs_p": "p.Arg4862His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001036.6",
"protein_coding": true,
"protein_id": "ENSP00000489262.1",
"strand": true,
"transcript": "ENST00000634891.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4869,
"aa_ref": "R",
"aa_start": 4861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15552,
"cdna_start": 14652,
"cds_end": null,
"cds_length": 14610,
"cds_start": 14582,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 104,
"exon_rank_end": null,
"feature": "ENST00000389232.9",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14582G>A",
"hgvs_p": "p.Arg4861His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373884.5",
"strand": true,
"transcript": "ENST00000389232.9",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "R",
"aa_start": 4857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15553,
"cdna_start": 14649,
"cds_end": null,
"cds_length": 14598,
"cds_start": 14570,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "NM_001243996.4",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14570G>A",
"hgvs_p": "p.Arg4857His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230925.1",
"strand": true,
"transcript": "NM_001243996.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "R",
"aa_start": 4857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15557,
"cdna_start": 14654,
"cds_end": null,
"cds_length": 14598,
"cds_start": 14570,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "ENST00000415757.7",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14570G>A",
"hgvs_p": "p.Arg4857His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399610.3",
"strand": true,
"transcript": "ENST00000415757.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4859,
"aa_ref": "R",
"aa_start": 4851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15078,
"cdna_start": 14552,
"cds_end": null,
"cds_length": 14580,
"cds_start": 14552,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 102,
"exon_rank_end": null,
"feature": "ENST00000634418.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14552G>A",
"hgvs_p": "p.Arg4851His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489529.1",
"strand": true,
"transcript": "ENST00000634418.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000634730.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Arg607His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489346.1",
"strand": true,
"transcript": "ENST00000634730.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000636568.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Arg459His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490632.1",
"strand": true,
"transcript": "ENST00000636568.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4866,
"aa_ref": "R",
"aa_start": 4858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15556,
"cdna_start": 14652,
"cds_end": null,
"cds_length": 14601,
"cds_start": 14573,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_017022468.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14573G>A",
"hgvs_p": "p.Arg4858His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877957.1",
"strand": true,
"transcript": "XM_017022468.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "R",
"aa_start": 4857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15553,
"cdna_start": 14649,
"cds_end": null,
"cds_length": 14598,
"cds_start": 14570,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_017022469.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14570G>A",
"hgvs_p": "p.Arg4857His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877958.1",
"strand": true,
"transcript": "XM_017022469.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "R",
"aa_start": 4857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18976,
"cdna_start": 18072,
"cds_end": null,
"cds_length": 14598,
"cds_start": 14570,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_017022470.3",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14570G>A",
"hgvs_p": "p.Arg4857His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877959.1",
"strand": true,
"transcript": "XM_017022470.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 4865,
"aa_ref": "R",
"aa_start": 4857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15553,
"cdna_start": 14649,
"cds_end": null,
"cds_length": 14598,
"cds_start": 14570,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_017022471.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14570G>A",
"hgvs_p": "p.Arg4857His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877960.1",
"strand": true,
"transcript": "XM_017022471.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 4864,
"aa_ref": "R",
"aa_start": 4856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15550,
"cdna_start": 14646,
"cds_end": null,
"cds_length": 14595,
"cds_start": 14567,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_017022472.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14567G>A",
"hgvs_p": "p.Arg4856His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877961.1",
"strand": true,
"transcript": "XM_017022472.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 4864,
"aa_ref": "R",
"aa_start": 4856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15550,
"cdna_start": 14646,
"cds_end": null,
"cds_length": 14595,
"cds_start": 14567,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_024450015.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14567G>A",
"hgvs_p": "p.Arg4856His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305783.1",
"strand": true,
"transcript": "XM_024450015.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4863,
"aa_ref": "R",
"aa_start": 4855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15547,
"cdna_start": 14643,
"cds_end": null,
"cds_length": 14592,
"cds_start": 14564,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_024450016.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14564G>A",
"hgvs_p": "p.Arg4855His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305784.1",
"strand": true,
"transcript": "XM_024450016.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4860,
"aa_ref": "R",
"aa_start": 4852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15538,
"cdna_start": 14634,
"cds_end": null,
"cds_length": 14583,
"cds_start": 14555,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 102,
"exon_rank_end": null,
"feature": "XM_017022473.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14555G>A",
"hgvs_p": "p.Arg4852His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877962.1",
"strand": true,
"transcript": "XM_017022473.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15535,
"cdna_start": 14631,
"cds_end": null,
"cds_length": 14580,
"cds_start": 14552,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 102,
"exon_rank_end": null,
"feature": "XM_011521880.3",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14552G>A",
"hgvs_p": "p.Arg4851His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520182.1",
"strand": true,
"transcript": "XM_011521880.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
"aa_start": 4851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15713,
"cdna_start": 14809,
"cds_end": null,
"cds_length": 14580,
"cds_start": 14552,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 103,
"exon_rank_end": null,
"feature": "XM_017022474.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14552G>A",
"hgvs_p": "p.Arg4851His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877963.1",
"strand": true,
"transcript": "XM_017022474.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 4837,
"aa_ref": "R",
"aa_start": 4829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15469,
"cdna_start": 14565,
"cds_end": null,
"cds_length": 14514,
"cds_start": 14486,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 102,
"exon_rank_end": null,
"feature": "XM_017022475.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14486G>A",
"hgvs_p": "p.Arg4829His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877964.1",
"strand": true,
"transcript": "XM_017022475.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4831,
"aa_ref": "R",
"aa_start": 4823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15451,
"cdna_start": 14547,
"cds_end": null,
"cds_length": 14496,
"cds_start": 14468,
"consequences": [
"missense_variant"
],
"exon_count": 101,
"exon_rank": 101,
"exon_rank_end": null,
"feature": "XM_047432932.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.14468G>A",
"hgvs_p": "p.Arg4823His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288888.1",
"strand": true,
"transcript": "XM_047432932.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4830,
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