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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: X-53199128-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53199128&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM5C",
"hgnc_id": 11114,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"inheritance_mode": "XL",
"pathogenic_score": 15,
"score": 15,
"transcript": "NM_004187.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MIR6894",
"hgnc_id": 49938,
"hgvs_c": "n.-183G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 15,
"score": 15,
"transcript": "NR_106954.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3,PP5_Very_Strong",
"acmg_score": 15,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9994,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "X",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8394031524658203,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 4683,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004187.5",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375401.8",
"protein_coding": true,
"protein_id": "NP_004178.2",
"strand": false,
"transcript": "NM_004187.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 4683,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000375401.8",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004187.5",
"protein_coding": true,
"protein_id": "ENSP00000364550.4",
"strand": false,
"transcript": "ENST00000375401.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 4680,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000404049.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385394.3",
"strand": false,
"transcript": "ENST00000404049.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "E",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 4785,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935430.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Glu732Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605489.1",
"strand": false,
"transcript": "ENST00000935430.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 4680,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001282622.3",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269551.1",
"strand": false,
"transcript": "NM_001282622.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5801,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 4674,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001353978.3",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340907.1",
"strand": false,
"transcript": "NM_001353978.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 4674,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000375379.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364528.3",
"strand": false,
"transcript": "ENST00000375379.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 4671,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861450.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531509.1",
"strand": false,
"transcript": "ENST00000861450.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 4605,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861452.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531511.1",
"strand": false,
"transcript": "ENST00000861452.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "E",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 4605,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000935431.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2014G>A",
"hgvs_p": "p.Glu672Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605490.1",
"strand": false,
"transcript": "ENST00000935431.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 4602,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861453.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531512.1",
"strand": false,
"transcript": "ENST00000861453.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 4596,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861454.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531513.1",
"strand": false,
"transcript": "ENST00000861454.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6571,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 4593,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861451.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531510.1",
"strand": false,
"transcript": "ENST00000861451.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 4551,
"cds_start": 1969,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000375383.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Glu657Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364532.3",
"strand": false,
"transcript": "ENST00000375383.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001353979.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340908.1",
"strand": false,
"transcript": "NM_001353979.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4807,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000691505.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510354.1",
"strand": false,
"transcript": "ENST00000691505.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 1449,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 4350,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001353981.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340910.1",
"strand": false,
"transcript": "NM_001353981.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 4350,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000685641.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509818.1",
"strand": false,
"transcript": "ENST00000685641.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1448,
"aa_ref": "E",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4969,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001353982.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Glu697Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340911.1",
"strand": false,
"transcript": "NM_001353982.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "E",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4928,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 4335,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001353984.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Glu698Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340913.1",
"strand": false,
"transcript": "NM_001353984.2",
"transcript_support_level": null
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