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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: 12-119690312-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119690312&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CIT",
"hgnc_id": 1985,
"hgvs_c": "c.6025C>T",
"hgvs_p": "p.Arg2009Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001206999.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.7969,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6768589019775391,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2069,
"aa_ref": "R",
"aa_start": 2009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8736,
"cdna_start": 6110,
"cds_end": null,
"cds_length": 6210,
"cds_start": 6025,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001206999.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6025C>T",
"hgvs_p": "p.Arg2009Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392521.7",
"protein_coding": true,
"protein_id": "NP_001193928.1",
"strand": false,
"transcript": "NM_001206999.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2069,
"aa_ref": "R",
"aa_start": 2009,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8736,
"cdna_start": 6110,
"cds_end": null,
"cds_length": 6210,
"cds_start": 6025,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000392521.7",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6025C>T",
"hgvs_p": "p.Arg2009Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001206999.2",
"protein_coding": true,
"protein_id": "ENSP00000376306.2",
"strand": false,
"transcript": "ENST00000392521.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2027,
"aa_ref": "R",
"aa_start": 1967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8578,
"cdna_start": 5952,
"cds_end": null,
"cds_length": 6084,
"cds_start": 5899,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000261833.11",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.5899C>T",
"hgvs_p": "p.Arg1967Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261833.7",
"strand": false,
"transcript": "ENST00000261833.11",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "R",
"aa_start": 2008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8745,
"cdna_start": 6119,
"cds_end": null,
"cds_length": 6207,
"cds_start": 6022,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000928243.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6022C>T",
"hgvs_p": "p.Arg2008Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598302.1",
"strand": false,
"transcript": "ENST00000928243.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2065,
"aa_ref": "R",
"aa_start": 2008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6744,
"cdna_start": 6094,
"cds_end": null,
"cds_length": 6198,
"cds_start": 6022,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000928244.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6022C>T",
"hgvs_p": "p.Arg2008Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598303.1",
"strand": false,
"transcript": "ENST00000928244.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2027,
"aa_ref": "R",
"aa_start": 1967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8610,
"cdna_start": 5984,
"cds_end": null,
"cds_length": 6084,
"cds_start": 5899,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_007174.3",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.5899C>T",
"hgvs_p": "p.Arg1967Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009105.1",
"strand": false,
"transcript": "NM_007174.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2011,
"aa_ref": "R",
"aa_start": 1951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8546,
"cdna_start": 5923,
"cds_end": null,
"cds_length": 6036,
"cds_start": 5851,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000867920.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.5851C>T",
"hgvs_p": "p.Arg1951Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537979.1",
"strand": false,
"transcript": "ENST00000867920.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1639,
"aa_ref": "R",
"aa_start": 1579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 4737,
"cds_end": null,
"cds_length": 4920,
"cds_start": 4735,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000392520.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4735C>T",
"hgvs_p": "p.Arg1579Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376305.2",
"strand": false,
"transcript": "ENST00000392520.2",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "R",
"aa_start": 1557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7611,
"cdna_start": 4997,
"cds_end": null,
"cds_length": 4854,
"cds_start": 4669,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000679249.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4669C>T",
"hgvs_p": "p.Arg1557Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503976.1",
"strand": false,
"transcript": "ENST00000679249.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "R",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7592,
"cdna_start": 4978,
"cds_end": null,
"cds_length": 4827,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000676849.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Arg1548Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503214.1",
"strand": false,
"transcript": "ENST00000676849.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "R",
"aa_start": 1548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7619,
"cdna_start": 5005,
"cds_end": null,
"cds_length": 4827,
"cds_start": 4642,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000678652.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4642C>T",
"hgvs_p": "p.Arg1548Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504849.1",
"strand": false,
"transcript": "ENST00000678652.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7828,
"cdna_start": 5214,
"cds_end": null,
"cds_length": 4812,
"cds_start": 4627,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000677993.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4627C>T",
"hgvs_p": "p.Arg1543Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503765.1",
"strand": false,
"transcript": "ENST00000677993.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1566,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7684,
"cdna_start": 5070,
"cds_end": null,
"cds_length": 4701,
"cds_start": 4516,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000678087.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4516C>T",
"hgvs_p": "p.Arg1506Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503863.1",
"strand": false,
"transcript": "ENST00000678087.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1537,
"aa_ref": "R",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7371,
"cdna_start": 4757,
"cds_end": null,
"cds_length": 4614,
"cds_start": 4429,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000678677.1",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.4429C>T",
"hgvs_p": "p.Arg1477Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503253.1",
"strand": false,
"transcript": "ENST00000678677.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2084,
"aa_ref": "R",
"aa_start": 2024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8781,
"cdna_start": 6155,
"cds_end": null,
"cds_length": 6255,
"cds_start": 6070,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011537783.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6070C>T",
"hgvs_p": "p.Arg2024Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536085.1",
"strand": false,
"transcript": "XM_011537783.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2083,
"aa_ref": "R",
"aa_start": 2023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8778,
"cdna_start": 6152,
"cds_end": null,
"cds_length": 6252,
"cds_start": 6067,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011537784.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6067C>T",
"hgvs_p": "p.Arg2023Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536086.1",
"strand": false,
"transcript": "XM_011537784.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2069,
"aa_ref": "R",
"aa_start": 2009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8736,
"cdna_start": 6110,
"cds_end": null,
"cds_length": 6210,
"cds_start": 6025,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011537785.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6025C>T",
"hgvs_p": "p.Arg2009Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536087.1",
"strand": false,
"transcript": "XM_011537785.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 2068,
"aa_ref": "R",
"aa_start": 2008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8733,
"cdna_start": 6107,
"cds_end": null,
"cds_length": 6207,
"cds_start": 6022,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_017018735.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6022C>T",
"hgvs_p": "p.Arg2008Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874224.1",
"strand": false,
"transcript": "XM_017018735.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 2068,
"aa_ref": "R",
"aa_start": 2008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8733,
"cdna_start": 6107,
"cds_end": null,
"cds_length": 6207,
"cds_start": 6022,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017018736.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.6022C>T",
"hgvs_p": "p.Arg2008Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874225.1",
"strand": false,
"transcript": "XM_017018736.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2054,
"aa_ref": "R",
"aa_start": 1994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 6065,
"cds_end": null,
"cds_length": 6165,
"cds_start": 5980,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_006719206.3",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.5980C>T",
"hgvs_p": "p.Arg1994Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719269.1",
"strand": false,
"transcript": "XM_006719206.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2053,
"aa_ref": "R",
"aa_start": 1993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8688,
"cdna_start": 6062,
"cds_end": null,
"cds_length": 6162,
"cds_start": 5977,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_017018737.2",
"gene_hgnc_id": 1985,
"gene_symbol": "CIT",
"hgvs_c": "c.5977C>T",
"hgvs_p": "p.Arg1993Cys",
"intron_rank": null,
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{
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{
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],
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"dbsnp": "rs1486690726",
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
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"pos": 119690312,
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}
]
}