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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: 15-33841994-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33841994&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"hgvs_c": "c.13168A>G",
"hgvs_p": "p.Asn4390Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001036.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1076,
"alphamissense_prediction": null,
"alphamissense_score": 0.1259,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "15",
"clinvar_classification": "Benign",
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009970337152481079,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 4870,
"aa_ref": "N",
"aa_start": 4390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15568,
"cdna_start": 13247,
"cds_end": null,
"cds_length": 14613,
"cds_start": 13168,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "NM_001036.6",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13168A>G",
"hgvs_p": "p.Asn4390Asp",
"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": "D",
"aa_end": null,
"aa_length": 4870,
"aa_ref": "N",
"aa_start": 4390,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15568,
"cdna_start": 13247,
"cds_end": null,
"cds_length": 14613,
"cds_start": 13168,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000634891.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13168A>G",
"hgvs_p": "p.Asn4390Asp",
"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": "D",
"aa_end": null,
"aa_length": 4869,
"aa_ref": "N",
"aa_start": 4389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15552,
"cdna_start": 13235,
"cds_end": null,
"cds_length": 14610,
"cds_start": 13165,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000389232.9",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13165A>G",
"hgvs_p": "p.Asn4389Asp",
"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": "D",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "N",
"aa_start": 4385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15553,
"cdna_start": 13232,
"cds_end": null,
"cds_length": 14598,
"cds_start": 13153,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "NM_001243996.4",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13153A>G",
"hgvs_p": "p.Asn4385Asp",
"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": "D",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "N",
"aa_start": 4385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15557,
"cdna_start": 13237,
"cds_end": null,
"cds_length": 14598,
"cds_start": 13153,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000415757.7",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13153A>G",
"hgvs_p": "p.Asn4385Asp",
"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": "D",
"aa_end": null,
"aa_length": 4859,
"aa_ref": "N",
"aa_start": 4379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15078,
"cdna_start": 13135,
"cds_end": null,
"cds_length": 14580,
"cds_start": 13135,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "ENST00000634418.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13135A>G",
"hgvs_p": "p.Asn4379Asp",
"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": "D",
"aa_end": null,
"aa_length": 615,
"aa_ref": "N",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1848,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000634730.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Asn164Asp",
"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": "D",
"aa_end": null,
"aa_length": 467,
"aa_ref": "N",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 27,
"cds_end": null,
"cds_length": 1404,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636568.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Asn9Asp",
"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": "D",
"aa_end": null,
"aa_length": 4866,
"aa_ref": "N",
"aa_start": 4386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15556,
"cdna_start": 13235,
"cds_end": null,
"cds_length": 14601,
"cds_start": 13156,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022468.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13156A>G",
"hgvs_p": "p.Asn4386Asp",
"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": "D",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "N",
"aa_start": 4385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15553,
"cdna_start": 13232,
"cds_end": null,
"cds_length": 14598,
"cds_start": 13153,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022469.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13153A>G",
"hgvs_p": "p.Asn4385Asp",
"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": "D",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "N",
"aa_start": 4385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18976,
"cdna_start": 16655,
"cds_end": null,
"cds_length": 14598,
"cds_start": 13153,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022470.3",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13153A>G",
"hgvs_p": "p.Asn4385Asp",
"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": "D",
"aa_end": null,
"aa_length": 4865,
"aa_ref": "N",
"aa_start": 4385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15553,
"cdna_start": 13232,
"cds_end": null,
"cds_length": 14598,
"cds_start": 13153,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022471.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13153A>G",
"hgvs_p": "p.Asn4385Asp",
"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": "D",
"aa_end": null,
"aa_length": 4864,
"aa_ref": "N",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15550,
"cdna_start": 13229,
"cds_end": null,
"cds_length": 14595,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022472.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13150A>G",
"hgvs_p": "p.Asn4384Asp",
"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": "D",
"aa_end": null,
"aa_length": 4864,
"aa_ref": "N",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15550,
"cdna_start": 13229,
"cds_end": null,
"cds_length": 14595,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_024450015.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13150A>G",
"hgvs_p": "p.Asn4384Asp",
"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": "D",
"aa_end": null,
"aa_length": 4863,
"aa_ref": "N",
"aa_start": 4383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15547,
"cdna_start": 13226,
"cds_end": null,
"cds_length": 14592,
"cds_start": 13147,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_024450016.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13147A>G",
"hgvs_p": "p.Asn4383Asp",
"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": "D",
"aa_end": null,
"aa_length": 4860,
"aa_ref": "N",
"aa_start": 4380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15538,
"cdna_start": 13217,
"cds_end": null,
"cds_length": 14583,
"cds_start": 13138,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_017022473.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13138A>G",
"hgvs_p": "p.Asn4380Asp",
"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": "D",
"aa_end": null,
"aa_length": 4859,
"aa_ref": "N",
"aa_start": 4379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15535,
"cdna_start": 13214,
"cds_end": null,
"cds_length": 14580,
"cds_start": 13135,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_011521880.3",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13135A>G",
"hgvs_p": "p.Asn4379Asp",
"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": "D",
"aa_end": null,
"aa_length": 4859,
"aa_ref": "N",
"aa_start": 4379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15713,
"cdna_start": 13392,
"cds_end": null,
"cds_length": 14580,
"cds_start": 13135,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022474.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13135A>G",
"hgvs_p": "p.Asn4379Asp",
"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": "D",
"aa_end": null,
"aa_length": 4838,
"aa_ref": "N",
"aa_start": 4386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16497,
"cdna_start": 13235,
"cds_end": null,
"cds_length": 14517,
"cds_start": 13156,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_047432931.1",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13156A>G",
"hgvs_p": "p.Asn4386Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288887.1",
"strand": true,
"transcript": "XM_047432931.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 4837,
"aa_ref": "N",
"aa_start": 4386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15469,
"cdna_start": 13235,
"cds_end": null,
"cds_length": 14514,
"cds_start": 13156,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_017022475.2",
"gene_hgnc_id": 10485,
"gene_symbol": "RYR3",
"hgvs_c": "c.13156A>G",
"hgvs_p": "p.Asn4386Asp",
"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": "D",
"aa_end": null,
"aa_length": 4831,
"aa_ref": "N",
"aa_start": 4380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15451,
"cdna_start": 13217,
"cds_end": null,
"cds_length": 14496,
"cds_start": 13138,
"consequences": [
"missense_variant"
],
"exon_count": 101,
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