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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: 11-125429997-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125429997&ref=A&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": "PKNOX2",
"hgnc_id": 16714,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001382323.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9523,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "11",
"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": 0.8453476428985596,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382323.2",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298282.14",
"protein_coding": true,
"protein_id": "NP_001369252.1",
"strand": true,
"transcript": "NM_001382323.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000298282.14",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382323.2",
"protein_coding": true,
"protein_id": "ENSP00000298282.8",
"strand": true,
"transcript": "ENST00000298282.14",
"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": 4531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526955.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "n.2163A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000526955.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 528,
"aa_ref": "M",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878499.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Met406Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548558.1",
"strand": true,
"transcript": "ENST00000878499.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382324.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369253.1",
"strand": true,
"transcript": "NM_001382324.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382325.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369254.1",
"strand": true,
"transcript": "NM_001382325.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382326.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369255.1",
"strand": true,
"transcript": "NM_001382326.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382327.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369256.1",
"strand": true,
"transcript": "NM_001382327.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3755,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001382328.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369257.1",
"strand": true,
"transcript": "NM_001382328.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878493.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548552.1",
"strand": true,
"transcript": "ENST00000878493.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878495.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548554.1",
"strand": true,
"transcript": "ENST00000878495.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 472,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878496.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548555.1",
"strand": true,
"transcript": "ENST00000878496.1",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1203,
"cds_end": null,
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"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 12,
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"exon_rank_end": null,
"feature": "ENST00000878497.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548556.1",
"strand": true,
"transcript": "ENST00000878497.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "M",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000878498.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548557.1",
"strand": true,
"transcript": "ENST00000878498.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 472,
"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 1273,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878500.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Met350Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548559.1",
"strand": true,
"transcript": "ENST00000878500.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 468,
"aa_ref": "M",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382339.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Met346Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369268.1",
"strand": true,
"transcript": "NM_001382339.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 468,
"aa_ref": "M",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1036,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000920819.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Met346Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590878.1",
"strand": true,
"transcript": "ENST00000920819.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 443,
"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 1058,
"cds_end": null,
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"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001382329.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369258.1",
"strand": true,
"transcript": "NM_001382329.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 443,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1332,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001382330.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369259.1",
"strand": true,
"transcript": "NM_001382330.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 443,
"aa_ref": "M",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1332,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382331.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369260.1",
"strand": true,
"transcript": "NM_001382331.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 443,
"aa_ref": "M",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1332,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382332.1",
"gene_hgnc_id": 16714,
"gene_symbol": "PKNOX2",
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
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"3_prime_UTR_variant"
],
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"feature": "ENST00000532623.5",
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"protein_id": "ENSP00000434377.1",
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"transcript": "ENST00000532623.5",
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}
],
"custom_annotations": null,
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"dbscsnv_ada_score": null,
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"effect": "missense_variant",
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.242,
"pos": 125429997,
"ref": "A",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001382323.2"
}
]
}