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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: 6-26409586-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26409586&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BTN3A1",
"hgnc_id": 1138,
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_007048.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291336",
"hgnc_id": null,
"hgvs_c": "n.1000-143601C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000707189.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000291338",
"hgnc_id": null,
"hgvs_c": "n.1001-123119C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000707191.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1204,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0704164206981659,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 513,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1542,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_007048.6",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000289361.11",
"protein_coding": true,
"protein_id": "NP_008979.3",
"strand": true,
"transcript": "NM_007048.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 513,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1542,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000289361.11",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007048.6",
"protein_coding": true,
"protein_id": "ENSP00000289361.6",
"strand": true,
"transcript": "ENST00000289361.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000476549.6",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420010.2",
"strand": true,
"transcript": "ENST00000476549.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 513,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1542,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000850859.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520946.1",
"strand": true,
"transcript": "ENST00000850859.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 513,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1542,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865809.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535868.1",
"strand": true,
"transcript": "ENST00000865809.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 506,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1521,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865808.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535867.1",
"strand": true,
"transcript": "ENST00000865808.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 461,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1386,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145008.2",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Pro205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138480.1",
"strand": true,
"transcript": "NM_001145008.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 461,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1386,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000414912.2",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Pro205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406667.2",
"strand": true,
"transcript": "ENST00000414912.2",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 461,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1386,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865812.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Pro205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535871.1",
"strand": true,
"transcript": "ENST00000865812.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 454,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1365,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865811.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Pro205Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535870.1",
"strand": true,
"transcript": "ENST00000865811.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 378,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1137,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145009.2",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138481.1",
"strand": true,
"transcript": "NM_001145009.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 1124,
"cds_end": null,
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"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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"feature": "ENST00000425234.6",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396684.2",
"strand": true,
"transcript": "ENST00000425234.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3682,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_194441.3",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_919423.1",
"strand": true,
"transcript": "NM_194441.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4625,
"cdna_start": 2336,
"cds_end": null,
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"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418120.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274076.1",
"strand": true,
"transcript": "XM_047418120.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 513,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 1542,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418121.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274077.1",
"strand": true,
"transcript": "XM_047418121.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1521,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005248833.3",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248890.1",
"strand": true,
"transcript": "XM_005248833.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
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"feature": "XM_047418122.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274078.1",
"strand": true,
"transcript": "XM_047418122.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4977,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 1137,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
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"feature": "XM_047418123.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274079.1",
"strand": true,
"transcript": "XM_047418123.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 352,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005248834.5",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248891.1",
"strand": true,
"transcript": "XM_005248834.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 352,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5089,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418124.1",
"gene_hgnc_id": 1138,
"gene_symbol": "BTN3A1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Pro257Ala",
"intron_rank": null,
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