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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: 1-237783956-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237783956&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"hgvs_c": "c.12244G>T",
"hgvs_p": "p.Glu4082*",
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001035.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000296715",
"hgnc_id": null,
"hgvs_c": "n.860C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000741291.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "E",
"aa_start": 4082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 12582,
"cds_end": null,
"cds_length": 14904,
"cds_start": 12244,
"consequences": [
"stop_gained"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "NM_001035.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12244G>T",
"hgvs_p": "p.Glu4082*",
"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": "*",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "E",
"aa_start": 4082,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 12582,
"cds_end": null,
"cds_length": 14904,
"cds_start": 12244,
"consequences": [
"stop_gained"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000366574.7",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12244G>T",
"hgvs_p": "p.Glu4082*",
"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": "*",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "E",
"aa_start": 4090,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12606,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12268,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000661330.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12268G>T",
"hgvs_p": "p.Glu4090*",
"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.*3336G>T",
"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.*3336G>T",
"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": "*",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "E",
"aa_start": 4089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 12603,
"cds_end": null,
"cds_length": 14925,
"cds_start": 12265,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000660292.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12265G>T",
"hgvs_p": "p.Glu4089*",
"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": "*",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "E",
"aa_start": 4088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12600,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12262,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000714021.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12262G>T",
"hgvs_p": "p.Glu4088*",
"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": "*",
"aa_end": null,
"aa_length": 4961,
"aa_ref": "E",
"aa_start": 4078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16565,
"cdna_start": 12570,
"cds_end": null,
"cds_length": 14886,
"cds_start": 12232,
"consequences": [
"stop_gained"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000659194.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12232G>T",
"hgvs_p": "p.Glu4078*",
"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": "*",
"aa_end": null,
"aa_length": 4955,
"aa_ref": "E",
"aa_start": 4070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16547,
"cdna_start": 12546,
"cds_end": null,
"cds_length": 14868,
"cds_start": 12208,
"consequences": [
"stop_gained"
],
"exon_count": 103,
"exon_rank": 88,
"exon_rank_end": null,
"feature": "ENST00000714019.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12208G>T",
"hgvs_p": "p.Glu4070*",
"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": "*",
"aa_end": null,
"aa_length": 4930,
"aa_ref": "E",
"aa_start": 4045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16472,
"cdna_start": 12471,
"cds_end": null,
"cds_length": 14793,
"cds_start": 12133,
"consequences": [
"stop_gained"
],
"exon_count": 102,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "ENST00000714018.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12133G>T",
"hgvs_p": "p.Glu4045*",
"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": "*",
"aa_end": null,
"aa_length": 4312,
"aa_ref": "E",
"aa_start": 3427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14712,
"cdna_start": 10711,
"cds_end": null,
"cds_length": 12939,
"cds_start": 10279,
"consequences": [
"stop_gained"
],
"exon_count": 89,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000714022.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.10279G>T",
"hgvs_p": "p.Glu3427*",
"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": "*",
"aa_end": null,
"aa_length": 4985,
"aa_ref": "E",
"aa_start": 4100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16637,
"cdna_start": 12636,
"cds_end": null,
"cds_length": 14958,
"cds_start": 12298,
"consequences": [
"stop_gained"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711802.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12298G>T",
"hgvs_p": "p.Glu4100*",
"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": "*",
"aa_end": null,
"aa_length": 4984,
"aa_ref": "E",
"aa_start": 4099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16634,
"cdna_start": 12633,
"cds_end": null,
"cds_length": 14955,
"cds_start": 12295,
"consequences": [
"stop_gained"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711803.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12295G>T",
"hgvs_p": "p.Glu4099*",
"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": "*",
"aa_end": null,
"aa_length": 4978,
"aa_ref": "E",
"aa_start": 4093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16616,
"cdna_start": 12615,
"cds_end": null,
"cds_length": 14937,
"cds_start": 12277,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_017002028.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12277G>T",
"hgvs_p": "p.Glu4093*",
"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": "*",
"aa_end": null,
"aa_length": 4977,
"aa_ref": "E",
"aa_start": 4092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16613,
"cdna_start": 12612,
"cds_end": null,
"cds_length": 14934,
"cds_start": 12274,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711804.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12274G>T",
"hgvs_p": "p.Glu4092*",
"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": "*",
"aa_end": null,
"aa_length": 4975,
"aa_ref": "E",
"aa_start": 4090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16607,
"cdna_start": 12606,
"cds_end": null,
"cds_length": 14928,
"cds_start": 12268,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711805.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12268G>T",
"hgvs_p": "p.Glu4090*",
"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": "*",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "E",
"aa_start": 4089,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 12603,
"cds_end": null,
"cds_length": 14925,
"cds_start": 12265,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_047427317.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12265G>T",
"hgvs_p": "p.Glu4089*",
"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": "*",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "E",
"aa_start": 4088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12600,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12262,
"consequences": [
"stop_gained"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711806.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12262G>T",
"hgvs_p": "p.Glu4088*",
"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": "*",
"aa_end": null,
"aa_length": 4965,
"aa_ref": "E",
"aa_start": 4080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16577,
"cdna_start": 12576,
"cds_end": null,
"cds_length": 14898,
"cds_start": 12238,
"consequences": [
"stop_gained"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_006711807.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12238G>T",
"hgvs_p": "p.Glu4080*",
"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": "*",
"aa_end": null,
"aa_length": 4954,
"aa_ref": "E",
"aa_start": 4069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16544,
"cdna_start": 12543,
"cds_end": null,
"cds_length": 14865,
"cds_start": 12205,
"consequences": [
"stop_gained"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_006711810.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12205G>T",
"hgvs_p": "p.Glu4069*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711873.1",
"strand": true,
"transcript": "XM_006711810.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4906,
"aa_ref": "E",
"aa_start": 4021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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