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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: 1-237793873-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237793873&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 237793873,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000366574.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13789T>G",
"hgvs_p": "p.Leu4597Val",
"transcript": "NM_001035.3",
"protein_id": "NP_001026.2",
"transcript_support_level": null,
"aa_start": 4597,
"aa_end": null,
"aa_length": 4967,
"cds_start": 13789,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 14127,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "ENST00000366574.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13789T>G",
"hgvs_p": "p.Leu4597Val",
"transcript": "ENST00000366574.7",
"protein_id": "ENSP00000355533.2",
"transcript_support_level": 1,
"aa_start": 4597,
"aa_end": null,
"aa_length": 4967,
"cds_start": 13789,
"cds_end": null,
"cds_length": 14904,
"cdna_start": 14127,
"cdna_end": null,
"cdna_length": 16583,
"mane_select": "NM_001035.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13807T>G",
"hgvs_p": "p.Leu4603Val",
"transcript": "ENST00000661330.2",
"protein_id": "ENSP00000499393.2",
"transcript_support_level": null,
"aa_start": 4603,
"aa_end": null,
"aa_length": 4973,
"cds_start": 13807,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14145,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*4881T>G",
"hgvs_p": null,
"transcript": "ENST00000609119.2",
"protein_id": "ENSP00000499659.2",
"transcript_support_level": 5,
"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": 16525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "n.*4881T>G",
"hgvs_p": null,
"transcript": "ENST00000609119.2",
"protein_id": "ENSP00000499659.2",
"transcript_support_level": 5,
"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": 16525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13810T>G",
"hgvs_p": "p.Leu4604Val",
"transcript": "ENST00000660292.2",
"protein_id": "ENSP00000499787.2",
"transcript_support_level": null,
"aa_start": 4604,
"aa_end": null,
"aa_length": 4974,
"cds_start": 13810,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 14148,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13807T>G",
"hgvs_p": "p.Leu4603Val",
"transcript": "ENST00000714021.1",
"protein_id": "ENSP00000519311.1",
"transcript_support_level": null,
"aa_start": 4603,
"aa_end": null,
"aa_length": 4973,
"cds_start": 13807,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14145,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13771T>G",
"hgvs_p": "p.Leu4591Val",
"transcript": "ENST00000659194.3",
"protein_id": "ENSP00000499653.3",
"transcript_support_level": null,
"aa_start": 4591,
"aa_end": null,
"aa_length": 4961,
"cds_start": 13771,
"cds_end": null,
"cds_length": 14886,
"cdna_start": 14109,
"cdna_end": null,
"cdna_length": 16565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13753T>G",
"hgvs_p": "p.Leu4585Val",
"transcript": "ENST00000714019.1",
"protein_id": "ENSP00000519309.1",
"transcript_support_level": null,
"aa_start": 4585,
"aa_end": null,
"aa_length": 4955,
"cds_start": 13753,
"cds_end": null,
"cds_length": 14868,
"cdna_start": 14091,
"cdna_end": null,
"cdna_length": 16547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 92,
"exon_rank_end": null,
"exon_count": 102,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13678T>G",
"hgvs_p": "p.Leu4560Val",
"transcript": "ENST00000714018.1",
"protein_id": "ENSP00000519308.1",
"transcript_support_level": null,
"aa_start": 4560,
"aa_end": null,
"aa_length": 4930,
"cds_start": 13678,
"cds_end": null,
"cds_length": 14793,
"cdna_start": 14016,
"cdna_end": null,
"cdna_length": 16472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.11824T>G",
"hgvs_p": "p.Leu3942Val",
"transcript": "ENST00000714022.1",
"protein_id": "ENSP00000519312.1",
"transcript_support_level": null,
"aa_start": 3942,
"aa_end": null,
"aa_length": 4312,
"cds_start": 11824,
"cds_end": null,
"cds_length": 12939,
"cdna_start": 12256,
"cdna_end": null,
"cdna_length": 14712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13843T>G",
"hgvs_p": "p.Leu4615Val",
"transcript": "XM_006711802.4",
"protein_id": "XP_006711865.1",
"transcript_support_level": null,
"aa_start": 4615,
"aa_end": null,
"aa_length": 4985,
"cds_start": 13843,
"cds_end": null,
"cds_length": 14958,
"cdna_start": 14181,
"cdna_end": null,
"cdna_length": 16637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 97,
"exon_rank_end": null,
"exon_count": 107,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13840T>G",
"hgvs_p": "p.Leu4614Val",
"transcript": "XM_006711803.4",
"protein_id": "XP_006711866.1",
"transcript_support_level": null,
"aa_start": 4614,
"aa_end": null,
"aa_length": 4984,
"cds_start": 13840,
"cds_end": null,
"cds_length": 14955,
"cdna_start": 14178,
"cdna_end": null,
"cdna_length": 16634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13822T>G",
"hgvs_p": "p.Leu4608Val",
"transcript": "XM_017002028.2",
"protein_id": "XP_016857517.1",
"transcript_support_level": null,
"aa_start": 4608,
"aa_end": null,
"aa_length": 4978,
"cds_start": 13822,
"cds_end": null,
"cds_length": 14937,
"cdna_start": 14160,
"cdna_end": null,
"cdna_length": 16616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13819T>G",
"hgvs_p": "p.Leu4607Val",
"transcript": "XM_006711804.4",
"protein_id": "XP_006711867.1",
"transcript_support_level": null,
"aa_start": 4607,
"aa_end": null,
"aa_length": 4977,
"cds_start": 13819,
"cds_end": null,
"cds_length": 14934,
"cdna_start": 14157,
"cdna_end": null,
"cdna_length": 16613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13813T>G",
"hgvs_p": "p.Leu4605Val",
"transcript": "XM_006711805.4",
"protein_id": "XP_006711868.1",
"transcript_support_level": null,
"aa_start": 4605,
"aa_end": null,
"aa_length": 4975,
"cds_start": 13813,
"cds_end": null,
"cds_length": 14928,
"cdna_start": 14151,
"cdna_end": null,
"cdna_length": 16607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13810T>G",
"hgvs_p": "p.Leu4604Val",
"transcript": "XM_047427317.1",
"protein_id": "XP_047283273.1",
"transcript_support_level": null,
"aa_start": 4604,
"aa_end": null,
"aa_length": 4974,
"cds_start": 13810,
"cds_end": null,
"cds_length": 14925,
"cdna_start": 14148,
"cdna_end": null,
"cdna_length": 16604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 96,
"exon_rank_end": null,
"exon_count": 106,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13807T>G",
"hgvs_p": "p.Leu4603Val",
"transcript": "XM_006711806.4",
"protein_id": "XP_006711869.1",
"transcript_support_level": null,
"aa_start": 4603,
"aa_end": null,
"aa_length": 4973,
"cds_start": 13807,
"cds_end": null,
"cds_length": 14922,
"cdna_start": 14145,
"cdna_end": null,
"cdna_length": 16601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 95,
"exon_rank_end": null,
"exon_count": 105,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13783T>G",
"hgvs_p": "p.Leu4595Val",
"transcript": "XM_006711807.4",
"protein_id": "XP_006711870.1",
"transcript_support_level": null,
"aa_start": 4595,
"aa_end": null,
"aa_length": 4965,
"cds_start": 13783,
"cds_end": null,
"cds_length": 14898,
"cdna_start": 14121,
"cdna_end": null,
"cdna_length": 16577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13750T>G",
"hgvs_p": "p.Leu4584Val",
"transcript": "XM_006711810.4",
"protein_id": "XP_006711873.1",
"transcript_support_level": null,
"aa_start": 4584,
"aa_end": null,
"aa_length": 4954,
"cds_start": 13750,
"cds_end": null,
"cds_length": 14865,
"cdna_start": 14088,
"cdna_end": null,
"cdna_length": 16544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 94,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13606T>G",
"hgvs_p": "p.Leu4536Val",
"transcript": "XM_006711808.4",
"protein_id": "XP_006711871.1",
"transcript_support_level": null,
"aa_start": 4536,
"aa_end": null,
"aa_length": 4906,
"cds_start": 13606,
"cds_end": null,
"cds_length": 14721,
"cdna_start": 13944,
"cdna_end": null,
"cdna_length": 16400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RYR2",
"gene_hgnc_id": 10484,
"hgvs_c": "c.13576T>G",
"hgvs_p": "p.Leu4526Val",
"transcript": "XM_047427329.1",
"protein_id": "XP_047283285.1",
"transcript_support_level": null,
"aa_start": 4526,
"aa_end": null,
"aa_length": 4896,
"cds_start": 13576,
"cds_end": null,
"cds_length": 14691,
"cdna_start": 13914,
"cdna_end": null,
"cdna_length": 16370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 93,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": null,
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}