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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: 17-8206624-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8206624&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AURKB",
"hgnc_id": 11390,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Ala186Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001284526.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9918,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8697899580001831,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004217.4",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000585124.6",
"protein_coding": true,
"protein_id": "NP_004208.2",
"strand": false,
"transcript": "NM_004217.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000585124.6",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004217.4",
"protein_coding": true,
"protein_id": "ENSP00000463999.1",
"strand": false,
"transcript": "ENST00000585124.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 345,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 634,
"cds_end": null,
"cds_length": 1038,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000316199.10",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Ala186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313950.6",
"strand": false,
"transcript": "ENST00000316199.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 457,
"cds_end": null,
"cds_length": 939,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000578549.5",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Ala153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462207.1",
"strand": false,
"transcript": "ENST00000578549.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1044,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932573.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.562G>C",
"hgvs_p": "p.Ala188Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602632.1",
"strand": false,
"transcript": "ENST00000932573.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 346,
"aa_ref": "A",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1041,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932561.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.559G>C",
"hgvs_p": "p.Ala187Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602620.1",
"strand": false,
"transcript": "ENST00000932561.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 345,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1038,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001284526.2",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Ala186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271455.1",
"strand": false,
"transcript": "NM_001284526.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 345,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1038,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932564.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Ala186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602623.1",
"strand": false,
"transcript": "ENST00000932564.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 600,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001313950.2",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300879.1",
"strand": false,
"transcript": "NM_001313950.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000881953.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552012.1",
"strand": false,
"transcript": "ENST00000881953.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 633,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932557.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602616.1",
"strand": false,
"transcript": "ENST00000932557.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932558.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602617.1",
"strand": false,
"transcript": "ENST00000932558.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1035,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932562.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Ala186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602621.1",
"strand": false,
"transcript": "ENST00000932562.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1035,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932572.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602631.1",
"strand": false,
"transcript": "ENST00000932572.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1032,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932567.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Ala186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602626.1",
"strand": false,
"transcript": "ENST00000932567.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 342,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1029,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932559.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.553G>C",
"hgvs_p": "p.Ala185Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602618.1",
"strand": false,
"transcript": "ENST00000932559.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 313,
"aa_ref": "A",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 576,
"cds_end": null,
"cds_length": 942,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932560.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Ala154Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602619.1",
"strand": false,
"transcript": "ENST00000932560.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 528,
"cds_end": null,
"cds_length": 939,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001313953.3",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Ala153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300882.1",
"strand": false,
"transcript": "NM_001313953.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 311,
"aa_ref": "A",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 564,
"cds_end": null,
"cds_length": 936,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932563.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.457G>C",
"hgvs_p": "p.Ala153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602622.1",
"strand": false,
"transcript": "ENST00000932563.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 304,
"aa_ref": "A",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 615,
"cds_end": null,
"cds_length": 915,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001313952.2",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Ala145Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300881.1",
"strand": false,
"transcript": "NM_001313952.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 303,
"aa_ref": "A",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 551,
"cds_end": null,
"cds_length": 912,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256834.3",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.430G>C",
"hgvs_p": "p.Ala144Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243763.1",
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{
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}
]
}