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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: 2-218134532-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218134532&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218134532,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001557.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "NM_001557.4",
"protein_id": "NP_001548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": "ENST00000318507.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001557.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000318507.7",
"protein_id": "ENSP00000319635.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": "NM_001557.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318507.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000453237.5",
"protein_id": "ENSP00000413686.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000428565.1",
"protein_id": "ENSP00000392698.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000454148.1",
"protein_id": "ENSP00000415148.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000418878.1",
"protein_id": "ENSP00000416815.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 14,
"cds_start": null,
"cds_end": null,
"cds_length": 45,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000449014.5",
"protein_id": "ENSP00000410506.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 14,
"cds_start": null,
"cds_end": null,
"cds_length": 45,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449014.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "NM_001168298.2",
"protein_id": "NP_001161770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168298.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000875238.1",
"protein_id": "ENSP00000545297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
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"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875238.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000875239.1",
"protein_id": "ENSP00000545298.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000875239.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "CXCR2",
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"hgvs_c": "c.-25-245G>T",
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"transcript": "ENST00000875240.1",
"protein_id": "ENSP00000545299.1",
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},
{
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],
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"gene_symbol": "CXCR2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CXCR2",
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},
{
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],
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"gene_symbol": "CXCR2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "CXCR2",
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"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "ENST00000415392.5",
"protein_id": "ENSP00000392348.1",
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"aa_start": null,
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},
{
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],
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"gene_symbol": "CXCR2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "CXCR2",
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"hgvs_c": "c.-25-245G>T",
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"transcript": "XM_017003991.2",
"protein_id": "XP_016859480.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "CXCR2",
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"hgvs_c": "c.-25-245G>T",
"hgvs_p": null,
"transcript": "XM_047444187.1",
"protein_id": "XP_047300143.1",
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},
{
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],
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},
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],
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},
{
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CXCR2",
"gene_hgnc_id": 6027,
"hgvs_c": "c.-104-373G>T",
"hgvs_p": null,
"transcript": "XM_047444191.1",
"protein_id": "XP_047300147.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047444191.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305582",
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{
"aa_ref": null,
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],
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"gene_symbol": "ENSG00000305582",
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"biotype": "pseudogene",
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],
"gene_symbol": "CXCR2",
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"dbsnp": "rs17844697",
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"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.338,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001557.4",
"gene_symbol": "CXCR2",
"hgnc_id": 6027,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000811769.1",
"gene_symbol": "ENSG00000305582",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.152+5358C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}