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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: 15-33840846-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=33840846&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 33840846,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000634891.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13000A>G",
"hgvs_p": "p.Asn4334Asp",
"transcript": "NM_001036.6",
"protein_id": "NP_001027.3",
"transcript_support_level": null,
"aa_start": 4334,
"aa_end": null,
"aa_length": 4870,
"cds_start": 13000,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 13079,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "ENST00000634891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.13000A>G",
"hgvs_p": "p.Asn4334Asp",
"transcript": "ENST00000634891.2",
"protein_id": "ENSP00000489262.1",
"transcript_support_level": 1,
"aa_start": 4334,
"aa_end": null,
"aa_length": 4870,
"cds_start": 13000,
"cds_end": null,
"cds_length": 14613,
"cdna_start": 13079,
"cdna_end": null,
"cdna_length": 15568,
"mane_select": "NM_001036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 90,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12997A>G",
"hgvs_p": "p.Asn4333Asp",
"transcript": "ENST00000389232.9",
"protein_id": "ENSP00000373884.5",
"transcript_support_level": 5,
"aa_start": 4333,
"aa_end": null,
"aa_length": 4869,
"cds_start": 12997,
"cds_end": null,
"cds_length": 14610,
"cdna_start": 13067,
"cdna_end": null,
"cdna_length": 15552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12985A>G",
"hgvs_p": "p.Asn4329Asp",
"transcript": "NM_001243996.4",
"protein_id": "NP_001230925.1",
"transcript_support_level": null,
"aa_start": 4329,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12985,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13064,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12985A>G",
"hgvs_p": "p.Asn4329Asp",
"transcript": "ENST00000415757.7",
"protein_id": "ENSP00000399610.3",
"transcript_support_level": 2,
"aa_start": 4329,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12985,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13069,
"cdna_end": null,
"cdna_length": 15557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12967A>G",
"hgvs_p": "p.Asn4323Asp",
"transcript": "ENST00000634418.1",
"protein_id": "ENSP00000489529.1",
"transcript_support_level": 5,
"aa_start": 4323,
"aa_end": null,
"aa_length": 4859,
"cds_start": 12967,
"cds_end": null,
"cds_length": 14580,
"cdna_start": 12967,
"cdna_end": null,
"cdna_length": 15078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Asn108Asp",
"transcript": "ENST00000634730.1",
"protein_id": "ENSP00000489346.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 615,
"cds_start": 322,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12988A>G",
"hgvs_p": "p.Asn4330Asp",
"transcript": "XM_017022468.2",
"protein_id": "XP_016877957.1",
"transcript_support_level": null,
"aa_start": 4330,
"aa_end": null,
"aa_length": 4866,
"cds_start": 12988,
"cds_end": null,
"cds_length": 14601,
"cdna_start": 13067,
"cdna_end": null,
"cdna_length": 15556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12985A>G",
"hgvs_p": "p.Asn4329Asp",
"transcript": "XM_017022469.2",
"protein_id": "XP_016877958.1",
"transcript_support_level": null,
"aa_start": 4329,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12985,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13064,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12985A>G",
"hgvs_p": "p.Asn4329Asp",
"transcript": "XM_017022470.3",
"protein_id": "XP_016877959.1",
"transcript_support_level": null,
"aa_start": 4329,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12985,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 16487,
"cdna_end": null,
"cdna_length": 18976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12985A>G",
"hgvs_p": "p.Asn4329Asp",
"transcript": "XM_017022471.2",
"protein_id": "XP_016877960.1",
"transcript_support_level": null,
"aa_start": 4329,
"aa_end": null,
"aa_length": 4865,
"cds_start": 12985,
"cds_end": null,
"cds_length": 14598,
"cdna_start": 13064,
"cdna_end": null,
"cdna_length": 15553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12982A>G",
"hgvs_p": "p.Asn4328Asp",
"transcript": "XM_017022472.2",
"protein_id": "XP_016877961.1",
"transcript_support_level": null,
"aa_start": 4328,
"aa_end": null,
"aa_length": 4864,
"cds_start": 12982,
"cds_end": null,
"cds_length": 14595,
"cdna_start": 13061,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12982A>G",
"hgvs_p": "p.Asn4328Asp",
"transcript": "XM_024450015.2",
"protein_id": "XP_024305783.1",
"transcript_support_level": null,
"aa_start": 4328,
"aa_end": null,
"aa_length": 4864,
"cds_start": 12982,
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"cds_length": 14595,
"cdna_start": 13061,
"cdna_end": null,
"cdna_length": 15550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12979A>G",
"hgvs_p": "p.Asn4327Asp",
"transcript": "XM_024450016.2",
"protein_id": "XP_024305784.1",
"transcript_support_level": null,
"aa_start": 4327,
"aa_end": null,
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"cds_start": 12979,
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"cdna_start": 13058,
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"cdna_length": 15547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12970A>G",
"hgvs_p": "p.Asn4324Asp",
"transcript": "XM_017022473.2",
"protein_id": "XP_016877962.1",
"transcript_support_level": null,
"aa_start": 4324,
"aa_end": null,
"aa_length": 4860,
"cds_start": 12970,
"cds_end": null,
"cds_length": 14583,
"cdna_start": 13049,
"cdna_end": null,
"cdna_length": 15538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12967A>G",
"hgvs_p": "p.Asn4323Asp",
"transcript": "XM_011521880.3",
"protein_id": "XP_011520182.1",
"transcript_support_level": null,
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"cdna_start": 13046,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12967A>G",
"hgvs_p": "p.Asn4323Asp",
"transcript": "XM_017022474.2",
"protein_id": "XP_016877963.1",
"transcript_support_level": null,
"aa_start": 4323,
"aa_end": null,
"aa_length": 4859,
"cds_start": 12967,
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"cds_length": 14580,
"cdna_start": 13224,
"cdna_end": null,
"cdna_length": 15713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12988A>G",
"hgvs_p": "p.Asn4330Asp",
"transcript": "XM_047432931.1",
"protein_id": "XP_047288887.1",
"transcript_support_level": null,
"aa_start": 4330,
"aa_end": null,
"aa_length": 4838,
"cds_start": 12988,
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"cds_length": 14517,
"cdna_start": 13067,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12988A>G",
"hgvs_p": "p.Asn4330Asp",
"transcript": "XM_017022475.2",
"protein_id": "XP_016877964.1",
"transcript_support_level": null,
"aa_start": 4330,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12970A>G",
"hgvs_p": "p.Asn4324Asp",
"transcript": "XM_047432932.1",
"protein_id": "XP_047288888.1",
"transcript_support_level": null,
"aa_start": 4324,
"aa_end": null,
"aa_length": 4831,
"cds_start": 12970,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12880A>G",
"hgvs_p": "p.Asn4294Asp",
"transcript": "XM_017022476.2",
"protein_id": "XP_016877965.1",
"transcript_support_level": null,
"aa_start": 4294,
"aa_end": null,
"aa_length": 4830,
"cds_start": 12880,
"cds_end": null,
"cds_length": 14493,
"cdna_start": 12959,
"cdna_end": null,
"cdna_length": 15448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 91,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR3",
"gene_hgnc_id": 10485,
"hgvs_c": "c.12988A>G",
"hgvs_p": "p.Asn4330Asp",
"transcript": "XM_047432933.1",
"protein_id": "XP_047288889.1",
"transcript_support_level": null,
"aa_start": 4330,
"aa_end": null,
"aa_length": 4402,
"cds_start": 12988,
"cds_end": null,
"cds_length": 13209,
"cdna_start": 13067,
"cdna_end": null,
"cdna_length": 13377,
"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": 4,
"exon_rank_end": null,
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{
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],
"gene_symbol": "RYR3",
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"dbsnp": "rs139249269",
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"computational_score_selected": 0.010837048292160034,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.0639,
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.137,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000634891.2",
"gene_symbol": "RYR3",
"hgnc_id": 10485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.13000A>G",
"hgvs_p": "p.Asn4334Asp"
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],
"clinvar_disease": "Epileptic encephalopathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Epileptic encephalopathy|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}