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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: 1-237784182-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=237784182&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RYR2",
"hgnc_id": 10484,
"hgvs_c": "c.12470G>A",
"hgvs_p": "p.Arg4157Gln",
"inheritance_mode": "AD",
"pathogenic_score": 15,
"score": 15,
"transcript": "NM_001035.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000296715",
"hgnc_id": null,
"hgvs_c": "n.634C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 12,
"score": 12,
"transcript": "ENST00000741291.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 15,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.4303,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Catecholaminergic polymorphic ventricular tachycardia 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9040088653564453,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "R",
"aa_start": 4157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 12808,
"cds_end": null,
"cds_length": 14904,
"cds_start": 12470,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "NM_001035.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12470G>A",
"hgvs_p": "p.Arg4157Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4967,
"aa_ref": "R",
"aa_start": 4157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16583,
"cdna_start": 12808,
"cds_end": null,
"cds_length": 14904,
"cds_start": 12470,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000366574.7",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12470G>A",
"hgvs_p": "p.Arg4157Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "R",
"aa_start": 4165,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12832,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12494,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000661330.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12494G>A",
"hgvs_p": "p.Arg4165Gln",
"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.*3562G>A",
"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.*3562G>A",
"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": "Q",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "R",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 12829,
"cds_end": null,
"cds_length": 14925,
"cds_start": 12491,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000660292.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12491G>A",
"hgvs_p": "p.Arg4164Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "R",
"aa_start": 4163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12826,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12488,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "ENST00000714021.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12488G>A",
"hgvs_p": "p.Arg4163Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4961,
"aa_ref": "R",
"aa_start": 4153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16565,
"cdna_start": 12796,
"cds_end": null,
"cds_length": 14886,
"cds_start": 12458,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "ENST00000659194.3",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12458G>A",
"hgvs_p": "p.Arg4153Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4955,
"aa_ref": "R",
"aa_start": 4145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16547,
"cdna_start": 12772,
"cds_end": null,
"cds_length": 14868,
"cds_start": 12434,
"consequences": [
"missense_variant"
],
"exon_count": 103,
"exon_rank": 88,
"exon_rank_end": null,
"feature": "ENST00000714019.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12434G>A",
"hgvs_p": "p.Arg4145Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4930,
"aa_ref": "R",
"aa_start": 4120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16472,
"cdna_start": 12697,
"cds_end": null,
"cds_length": 14793,
"cds_start": 12359,
"consequences": [
"missense_variant"
],
"exon_count": 102,
"exon_rank": 87,
"exon_rank_end": null,
"feature": "ENST00000714018.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12359G>A",
"hgvs_p": "p.Arg4120Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4312,
"aa_ref": "R",
"aa_start": 3502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14712,
"cdna_start": 10937,
"cds_end": null,
"cds_length": 12939,
"cds_start": 10505,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 74,
"exon_rank_end": null,
"feature": "ENST00000714022.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.10505G>A",
"hgvs_p": "p.Arg3502Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4985,
"aa_ref": "R",
"aa_start": 4175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16637,
"cdna_start": 12862,
"cds_end": null,
"cds_length": 14958,
"cds_start": 12524,
"consequences": [
"missense_variant"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711802.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12524G>A",
"hgvs_p": "p.Arg4175Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4984,
"aa_ref": "R",
"aa_start": 4174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16634,
"cdna_start": 12859,
"cds_end": null,
"cds_length": 14955,
"cds_start": 12521,
"consequences": [
"missense_variant"
],
"exon_count": 107,
"exon_rank": 92,
"exon_rank_end": null,
"feature": "XM_006711803.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12521G>A",
"hgvs_p": "p.Arg4174Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4978,
"aa_ref": "R",
"aa_start": 4168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16616,
"cdna_start": 12841,
"cds_end": null,
"cds_length": 14937,
"cds_start": 12503,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_017002028.2",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12503G>A",
"hgvs_p": "p.Arg4168Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4977,
"aa_ref": "R",
"aa_start": 4167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16613,
"cdna_start": 12838,
"cds_end": null,
"cds_length": 14934,
"cds_start": 12500,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711804.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12500G>A",
"hgvs_p": "p.Arg4167Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4975,
"aa_ref": "R",
"aa_start": 4165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16607,
"cdna_start": 12832,
"cds_end": null,
"cds_length": 14928,
"cds_start": 12494,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711805.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12494G>A",
"hgvs_p": "p.Arg4165Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4974,
"aa_ref": "R",
"aa_start": 4164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16604,
"cdna_start": 12829,
"cds_end": null,
"cds_length": 14925,
"cds_start": 12491,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_047427317.1",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12491G>A",
"hgvs_p": "p.Arg4164Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4973,
"aa_ref": "R",
"aa_start": 4163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16601,
"cdna_start": 12826,
"cds_end": null,
"cds_length": 14922,
"cds_start": 12488,
"consequences": [
"missense_variant"
],
"exon_count": 106,
"exon_rank": 91,
"exon_rank_end": null,
"feature": "XM_006711806.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12488G>A",
"hgvs_p": "p.Arg4163Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4965,
"aa_ref": "R",
"aa_start": 4155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16577,
"cdna_start": 12802,
"cds_end": null,
"cds_length": 14898,
"cds_start": 12464,
"consequences": [
"missense_variant"
],
"exon_count": 105,
"exon_rank": 90,
"exon_rank_end": null,
"feature": "XM_006711807.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12464G>A",
"hgvs_p": "p.Arg4155Gln",
"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": "Q",
"aa_end": null,
"aa_length": 4954,
"aa_ref": "R",
"aa_start": 4144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16544,
"cdna_start": 12769,
"cds_end": null,
"cds_length": 14865,
"cds_start": 12431,
"consequences": [
"missense_variant"
],
"exon_count": 104,
"exon_rank": 89,
"exon_rank_end": null,
"feature": "XM_006711810.4",
"gene_hgnc_id": 10484,
"gene_symbol": "RYR2",
"hgvs_c": "c.12431G>A",
"hgvs_p": "p.Arg4144Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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