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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: 12-27380300-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27380300&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BMAL2",
"hgnc_id": 18984,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Ile138Thr",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001394524.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.8425,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9502037763595581,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 636,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1911,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020183.6",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Ile127Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000266503.10",
"protein_coding": true,
"protein_id": "NP_064568.3",
"strand": true,
"transcript": "NM_020183.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 636,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1911,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000266503.10",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Ile127Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020183.6",
"protein_coding": true,
"protein_id": "ENSP00000266503.5",
"strand": true,
"transcript": "ENST00000266503.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 622,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1869,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000311001.9",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312247.5",
"strand": true,
"transcript": "ENST00000311001.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "I",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1800,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000395901.6",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Ile90Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379238.2",
"strand": true,
"transcript": "ENST00000395901.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 588,
"aa_ref": "I",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1767,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000261178.9",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261178.5",
"strand": true,
"transcript": "ENST00000261178.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "I",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1764,
"cds_start": 233,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000457040.6",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.233T>C",
"hgvs_p": "p.Ile78Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400185.2",
"strand": true,
"transcript": "ENST00000457040.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "I",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 131,
"cds_end": null,
"cds_length": 1656,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000542388.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Ile42Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445836.1",
"strand": true,
"transcript": "ENST00000542388.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 647,
"aa_ref": "I",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6935,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1944,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394524.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Ile138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381453.1",
"strand": true,
"transcript": "NM_001394524.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 633,
"aa_ref": "I",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6893,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1902,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394525.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Ile124Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381454.1",
"strand": true,
"transcript": "NM_001394525.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 633,
"aa_ref": "I",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1902,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959851.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Ile124Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629910.1",
"strand": true,
"transcript": "ENST00000959851.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 622,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6860,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1869,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001248002.3",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001234931.1",
"strand": true,
"transcript": "NM_001248002.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 605,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1818,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929515.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Ile127Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599574.1",
"strand": true,
"transcript": "ENST00000929515.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 602,
"aa_ref": "I",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6800,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1809,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394526.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Ile93Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381455.1",
"strand": true,
"transcript": "NM_001394526.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 602,
"aa_ref": "I",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6785,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1809,
"cds_start": 278,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000544915.5",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Ile93Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442438.1",
"strand": true,
"transcript": "ENST00000544915.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "I",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6791,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1800,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001248003.3",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Ile90Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001234932.1",
"strand": true,
"transcript": "NM_001248003.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 588,
"aa_ref": "I",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6758,
"cdna_start": 473,
"cds_end": null,
"cds_length": 1767,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001248004.3",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001234933.1",
"strand": true,
"transcript": "NM_001248004.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6749,
"cdna_start": 473,
"cds_end": null,
"cds_length": 1758,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394527.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381456.1",
"strand": true,
"transcript": "NM_001394527.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 568,
"aa_ref": "I",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6698,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1707,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394528.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Ile90Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381457.1",
"strand": true,
"transcript": "NM_001394528.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "I",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6665,
"cdna_start": 473,
"cds_end": null,
"cds_length": 1674,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394529.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381458.1",
"strand": true,
"transcript": "NM_001394529.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "I",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1674,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959850.1",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Ile79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629909.1",
"strand": true,
"transcript": "ENST00000959850.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "I",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6682,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1623,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001248005.3",
"gene_hgnc_id": 18984,
"gene_symbol": "BMAL2",
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Ile90Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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