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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: 1-202729105-TG-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202729105&ref=TG&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM5B",
"hgnc_id": 18039,
"hgvs_c": "c.4673_4674delCAinsAG",
"hgvs_p": "p.Pro1558Gln",
"inheritance_mode": "Unknown,AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001314042.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "P",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9292,
"cdna_start": 4682,
"cds_end": null,
"cds_length": 4635,
"cds_start": 4565,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006618.5",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4565_4566delCAinsAG",
"hgvs_p": "p.Pro1522Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367265.9",
"protein_coding": true,
"protein_id": "NP_006609.3",
"strand": false,
"transcript": "NM_006618.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "P",
"aa_start": 1522,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9292,
"cdna_start": 4682,
"cds_end": null,
"cds_length": 4635,
"cds_start": 4565,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367265.9",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4565_4566delCAinsAG",
"hgvs_p": "p.Pro1522Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006618.5",
"protein_coding": true,
"protein_id": "ENSP00000356234.3",
"strand": false,
"transcript": "ENST00000367265.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "P",
"aa_start": 1558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 4850,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4673,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367264.7",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4673_4674delCAinsAG",
"hgvs_p": "p.Pro1558Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356233.2",
"strand": false,
"transcript": "ENST00000367264.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472822.6",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "n.2104_2105delCAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472822.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1580,
"aa_ref": "P",
"aa_start": 1558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9400,
"cdna_start": 4790,
"cds_end": null,
"cds_length": 4743,
"cds_start": 4673,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001314042.2",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4673_4674delCAinsAG",
"hgvs_p": "p.Pro1558Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300971.1",
"strand": false,
"transcript": "NM_001314042.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1550,
"aa_ref": "P",
"aa_start": 1528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6421,
"cdna_start": 4728,
"cds_end": null,
"cds_length": 4653,
"cds_start": 4583,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949534.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4583_4584delCAinsAG",
"hgvs_p": "p.Pro1528Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619593.1",
"strand": false,
"transcript": "ENST00000949534.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1542,
"aa_ref": "P",
"aa_start": 1520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6440,
"cdna_start": 4739,
"cds_end": null,
"cds_length": 4629,
"cds_start": 4559,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939933.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4559_4560delCAinsAG",
"hgvs_p": "p.Pro1520Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609992.1",
"strand": false,
"transcript": "ENST00000939933.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "P",
"aa_start": 1517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9277,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 4620,
"cds_start": 4550,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001399817.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4550_4551delCAinsAG",
"hgvs_p": "p.Pro1517Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001386746.1",
"strand": false,
"transcript": "NM_001399817.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "P",
"aa_start": 1517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6390,
"cdna_start": 4733,
"cds_end": null,
"cds_length": 4620,
"cds_start": 4550,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648056.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4550_4551delCAinsAG",
"hgvs_p": "p.Pro1517Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497113.1",
"strand": false,
"transcript": "ENST00000648056.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "P",
"aa_start": 1481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5422,
"cdna_start": 4608,
"cds_end": null,
"cds_length": 4512,
"cds_start": 4442,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648469.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4442_4443delCAinsAG",
"hgvs_p": "p.Pro1481Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497827.1",
"strand": false,
"transcript": "ENST00000648469.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9157,
"cdna_start": 4547,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4430,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347591.2",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4430_4431delCAinsAG",
"hgvs_p": "p.Pro1477Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334520.1",
"strand": false,
"transcript": "NM_001347591.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 4542,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4430,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650569.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4430_4431delCAinsAG",
"hgvs_p": "p.Pro1477Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497671.1",
"strand": false,
"transcript": "ENST00000650569.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1497,
"aa_ref": "P",
"aa_start": 1475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6240,
"cdna_start": 4540,
"cds_end": null,
"cds_length": 4494,
"cds_start": 4424,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939935.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4424_4425delCAinsAG",
"hgvs_p": "p.Pro1475Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609994.1",
"strand": false,
"transcript": "ENST00000939935.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1491,
"aa_ref": "P",
"aa_start": 1469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6223,
"cdna_start": 4522,
"cds_end": null,
"cds_length": 4476,
"cds_start": 4406,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939934.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4406_4407delCAinsAG",
"hgvs_p": "p.Pro1469Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609993.1",
"strand": false,
"transcript": "ENST00000939934.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1487,
"aa_ref": "P",
"aa_start": 1465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 4510,
"cds_end": null,
"cds_length": 4464,
"cds_start": 4394,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939938.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4394_4395delCAinsAG",
"hgvs_p": "p.Pro1465Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609997.1",
"strand": false,
"transcript": "ENST00000939938.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "P",
"aa_start": 1408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6039,
"cdna_start": 4339,
"cds_end": null,
"cds_length": 4293,
"cds_start": 4223,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939936.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4223_4224delCAinsAG",
"hgvs_p": "p.Pro1408Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609995.1",
"strand": false,
"transcript": "ENST00000939936.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1420,
"aa_ref": "P",
"aa_start": 1398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5214,
"cdna_start": 4310,
"cds_end": null,
"cds_length": 4263,
"cds_start": 4193,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939937.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4193_4194delCAinsAG",
"hgvs_p": "p.Pro1398Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609996.1",
"strand": false,
"transcript": "ENST00000939937.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "P",
"aa_start": 1400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9403,
"cdna_start": 4793,
"cds_end": null,
"cds_length": 4269,
"cds_start": 4199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509090.4",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4199_4200delCAinsAG",
"hgvs_p": "p.Pro1400Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507392.1",
"strand": false,
"transcript": "XM_011509090.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "P",
"aa_start": 1400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9127,
"cdna_start": 4517,
"cds_end": null,
"cds_length": 4269,
"cds_start": 4199,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509091.3",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.4199_4200delCAinsAG",
"hgvs_p": "p.Pro1400Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507393.1",
"strand": false,
"transcript": "XM_011509091.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1517,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9485,
"cdna_start": null,
"cds_end": null,
"cds_length": 4554,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000648338.1",
"gene_hgnc_id": 18039,
"gene_symbol": "KDM5B",
"hgvs_c": "c.*544_*545delCAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497564.1",
"strand": false,
"transcript": "ENST00000648338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6703,
"cdna_start": null,
"cds_end": null,
"cds_length": 4518,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
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