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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: 2-174439934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174439934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPR155",
"hgnc_id": 22951,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_152529.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 48,
"alphamissense_prediction": null,
"alphamissense_score": 0.1567,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28202420473098755,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7346,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_152529.7",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392552.7",
"protein_coding": true,
"protein_id": "NP_689742.4",
"strand": false,
"transcript": "NM_152529.7",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7346,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000392552.7",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152529.7",
"protein_coding": true,
"protein_id": "ENSP00000376335.2",
"strand": false,
"transcript": "ENST00000392552.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000295500.8",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295500.4",
"strand": false,
"transcript": "ENST00000295500.8",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4876,
"cdna_start": 2575,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000392551.6",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376334.2",
"strand": false,
"transcript": "ENST00000392551.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 842,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7321,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000614352.4",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481104.1",
"strand": false,
"transcript": "ENST00000614352.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7495,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001033045.4",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028217.1",
"strand": false,
"transcript": "NM_001033045.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7392,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001267050.2",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253979.1",
"strand": false,
"transcript": "NM_001267050.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000886492.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556551.1",
"strand": false,
"transcript": "ENST00000886492.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000932232.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602291.1",
"strand": false,
"transcript": "ENST00000932232.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000932233.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602292.1",
"strand": false,
"transcript": "ENST00000932233.1",
"transcript_support_level": null
},
{
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"aa_length": 870,
"aa_ref": "R",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000949639.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619698.1",
"strand": false,
"transcript": "ENST00000949639.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 2660,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2276,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000949644.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619703.1",
"strand": false,
"transcript": "ENST00000949644.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949645.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2234G>A",
"hgvs_p": "p.Arg745His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619704.1",
"strand": false,
"transcript": "ENST00000949645.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 842,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7262,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001267051.2",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001253980.1",
"strand": false,
"transcript": "NM_001267051.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2529,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000886493.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556552.1",
"strand": false,
"transcript": "ENST00000886493.1",
"transcript_support_level": null
},
{
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"aa_length": 842,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 2499,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2192,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000949640.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619699.1",
"strand": false,
"transcript": "ENST00000949640.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 2525,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949641.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619700.1",
"strand": false,
"transcript": "ENST00000949641.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 2491,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949642.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Arg731His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619701.1",
"strand": false,
"transcript": "ENST00000949642.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2508,
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"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886491.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2171G>A",
"hgvs_p": "p.Arg724His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556550.1",
"strand": false,
"transcript": "ENST00000886491.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 835,
"aa_ref": "R",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 2563,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949643.1",
"gene_hgnc_id": 22951,
"gene_symbol": "GPR155",
"hgvs_c": "c.2171G>A",
"hgvs_p": "p.Arg724His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619702.1",
"strand": false,
"transcript": "ENST00000949643.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 713,
"aa_ref": "R",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1805,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
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}