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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: 11-64224329-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64224329&ref=T&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": "TRPT1",
"hgnc_id": 20316,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.His174Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001160389.2",
"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": 0.1121,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22993966937065125,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 661,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001033678.4",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317459.11",
"protein_coding": true,
"protein_id": "NP_001028850.2",
"strand": false,
"transcript": "NM_001033678.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 661,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000317459.11",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001033678.4",
"protein_coding": true,
"protein_id": "ENSP00000314073.6",
"strand": false,
"transcript": "ENST00000317459.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 204,
"aa_ref": "H",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": 541,
"cds_end": null,
"cds_length": 615,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394547.7",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.368A>C",
"hgvs_p": "p.His123Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378051.3",
"strand": false,
"transcript": "ENST00000394547.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 255,
"aa_ref": "H",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": 667,
"cds_end": null,
"cds_length": 768,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001160389.2",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.521A>C",
"hgvs_p": "p.His174Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153861.1",
"strand": false,
"transcript": "NM_001160389.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 255,
"aa_ref": "H",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 735,
"cds_end": null,
"cds_length": 768,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000394546.6",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.521A>C",
"hgvs_p": "p.His174Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378050.2",
"strand": false,
"transcript": "ENST00000394546.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 255,
"aa_ref": "H",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 901,
"cdna_start": 642,
"cds_end": null,
"cds_length": 768,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877505.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.521A>C",
"hgvs_p": "p.His174Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547564.1",
"strand": false,
"transcript": "ENST00000877505.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 524,
"cds_end": null,
"cds_length": 765,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001160393.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153865.1",
"strand": false,
"transcript": "NM_001160393.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 765,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877500.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547559.1",
"strand": false,
"transcript": "ENST00000877500.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 687,
"cds_end": null,
"cds_length": 765,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877501.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547560.1",
"strand": false,
"transcript": "ENST00000877501.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 947,
"cdna_start": 637,
"cds_end": null,
"cds_length": 765,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935368.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605427.1",
"strand": false,
"transcript": "ENST00000935368.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 254,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": 773,
"cds_end": null,
"cds_length": 765,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962781.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632840.1",
"strand": false,
"transcript": "ENST00000962781.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 649,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001160390.2",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153862.1",
"strand": false,
"transcript": "NM_001160390.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877499.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547558.1",
"strand": false,
"transcript": "ENST00000877499.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 688,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877507.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547566.1",
"strand": false,
"transcript": "ENST00000877507.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 924,
"cdna_start": 600,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935365.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605424.1",
"strand": false,
"transcript": "ENST00000935365.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 253,
"aa_ref": "H",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 787,
"cds_end": null,
"cds_length": 762,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962780.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.515A>C",
"hgvs_p": "p.His172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632839.1",
"strand": false,
"transcript": "ENST00000962780.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 252,
"aa_ref": "H",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 680,
"cds_end": null,
"cds_length": 759,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962782.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.512A>C",
"hgvs_p": "p.His171Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632841.1",
"strand": false,
"transcript": "ENST00000962782.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 250,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 668,
"cds_end": null,
"cds_length": 753,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962783.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.503A>C",
"hgvs_p": "p.His168Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632842.1",
"strand": false,
"transcript": "ENST00000962783.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 649,
"cds_end": null,
"cds_length": 750,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877503.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.503A>C",
"hgvs_p": "p.His168Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547562.1",
"strand": false,
"transcript": "ENST00000877503.1",
"transcript_support_level": null
},
{
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"aa_length": 249,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 604,
"cds_end": null,
"cds_length": 750,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935371.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.503A>C",
"hgvs_p": "p.His168Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605430.1",
"strand": false,
"transcript": "ENST00000935371.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 239,
"aa_ref": "H",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": 650,
"cds_end": null,
"cds_length": 720,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877506.1",
"gene_hgnc_id": 20316,
"gene_symbol": "TRPT1",
"hgvs_c": "c.521A>C",
"hgvs_p": "p.His174Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547565.1",
"strand": false,
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