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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-53193013-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53193013&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM5C",
"hgnc_id": 11114,
"hgvs_c": "c.4637G>A",
"hgvs_p": "p.Arg1546Gln",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_004187.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 499,
"alphamissense_prediction": null,
"alphamissense_score": 0.0694,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Spastic paraplegia,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.006986081600189209,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "R",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 4955,
"cds_end": null,
"cds_length": 4683,
"cds_start": 4637,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_004187.5",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4637G>A",
"hgvs_p": "p.Arg1546Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "R",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 4955,
"cds_end": null,
"cds_length": 4683,
"cds_start": 4637,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000375401.8",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4637G>A",
"hgvs_p": "p.Arg1546Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "R",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 4921,
"cds_end": null,
"cds_length": 4680,
"cds_start": 4634,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000404049.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4634G>A",
"hgvs_p": "p.Arg1545Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "R",
"aa_start": 1580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 5082,
"cds_end": null,
"cds_length": 4785,
"cds_start": 4739,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000935430.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4739G>A",
"hgvs_p": "p.Arg1580Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "R",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": 4952,
"cds_end": null,
"cds_length": 4680,
"cds_start": 4634,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001282622.3",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4634G>A",
"hgvs_p": "p.Arg1545Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "R",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5801,
"cdna_start": 4946,
"cds_end": null,
"cds_length": 4674,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001353978.3",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4628G>A",
"hgvs_p": "p.Arg1543Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "R",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 5161,
"cds_end": null,
"cds_length": 4674,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000375379.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4628G>A",
"hgvs_p": "p.Arg1543Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "R",
"aa_start": 1542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 4969,
"cds_end": null,
"cds_length": 4671,
"cds_start": 4625,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861450.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4625G>A",
"hgvs_p": "p.Arg1542Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "R",
"aa_start": 1520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 4877,
"cds_end": null,
"cds_length": 4605,
"cds_start": 4559,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861452.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4559G>A",
"hgvs_p": "p.Arg1520Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "R",
"aa_start": 1520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 4877,
"cds_end": null,
"cds_length": 4605,
"cds_start": 4559,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000935431.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4559G>A",
"hgvs_p": "p.Arg1520Gln",
"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": "Q",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "R",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 4896,
"cds_end": null,
"cds_length": 4602,
"cds_start": 4556,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861453.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4556G>A",
"hgvs_p": "p.Arg1519Gln",
"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": "Q",
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"aa_length": 1531,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": 4871,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4550,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861454.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4550G>A",
"hgvs_p": "p.Arg1517Gln",
"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
},
{
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"aa_length": 1530,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6571,
"cdna_start": 4881,
"cds_end": null,
"cds_length": 4593,
"cds_start": 4547,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000861451.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4547G>A",
"hgvs_p": "p.Arg1516Gln",
"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": "Q",
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"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 5038,
"cds_end": null,
"cds_length": 4551,
"cds_start": 4505,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000375383.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4505G>A",
"hgvs_p": "p.Arg1502Gln",
"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": null,
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"aa_length": 1451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": null,
"cds_end": null,
"cds_length": 4356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353979.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4314+424G>A",
"hgvs_p": null,
"intron_rank": 25,
"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": null,
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"aa_length": 1450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4807,
"cdna_start": null,
"cds_end": null,
"cds_length": 4353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691505.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4308+424G>A",
"hgvs_p": null,
"intron_rank": 25,
"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": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": null,
"cds_end": null,
"cds_length": 4350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353981.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4308+424G>A",
"hgvs_p": null,
"intron_rank": 25,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340910.1",
"strand": false,
"transcript": "NM_001353981.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 4350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685641.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4308+424G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509818.1",
"strand": false,
"transcript": "ENST00000685641.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 4347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353982.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4305+424G>A",
"hgvs_p": null,
"intron_rank": 25,
"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": null,
"aa_end": null,
"aa_length": 1444,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4928,
"cdna_start": null,
"cds_end": null,
"cds_length": 4335,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353984.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.4308+424G>A",
"hgvs_p": null,
"intron_rank": 25,
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1444,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5170,
"cdna_start": null,
"cds_end": null,
"cds_length": 4335,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
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