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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: 9-83850487-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83850487&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83850487,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000297814.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3358-190C>T",
"hgvs_p": null,
"transcript": "NM_017576.4",
"protein_id": "NP_060046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1401,
"cds_start": -4,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": "ENST00000297814.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3358-190C>T",
"hgvs_p": null,
"transcript": "ENST00000297814.7",
"protein_id": "ENSP00000297814.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1401,
"cds_start": -4,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": "NM_017576.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3160-190C>T",
"hgvs_p": null,
"transcript": "ENST00000413982.5",
"protein_id": "ENSP00000401688.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1335,
"cds_start": -4,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3067-190C>T",
"hgvs_p": null,
"transcript": "ENST00000334204.6",
"protein_id": "ENSP00000333928.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3160-190C>T",
"hgvs_p": null,
"transcript": "NM_001271927.3",
"protein_id": "NP_001258856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1335,
"cds_start": -4,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3067-190C>T",
"hgvs_p": null,
"transcript": "NM_001271928.3",
"protein_id": "NP_001258857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1304,
"cds_start": -4,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.2965-190C>T",
"hgvs_p": null,
"transcript": "NM_001354069.2",
"protein_id": "NP_001340998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
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"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.1918-190C>T",
"hgvs_p": null,
"transcript": "NM_001354070.2",
"protein_id": "NP_001340999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.1702-190C>T",
"hgvs_p": null,
"transcript": "NM_001354071.2",
"protein_id": "NP_001341000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": -4,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226877",
"gene_hgnc_id": null,
"hgvs_c": "n.356+896G>A",
"hgvs_p": null,
"transcript": "ENST00000421734.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1530,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "ENSG00000226877",
"gene_hgnc_id": null,
"hgvs_c": "n.290+896G>A",
"hgvs_p": null,
"transcript": "ENST00000586206.5",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "ENSG00000226877",
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},
{
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],
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"gene_symbol": "ENSG00000226877",
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},
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "ENSG00000226877",
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},
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],
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},
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],
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"gene_symbol": "ENSG00000226877",
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"hgvs_c": "n.451-8791G>A",
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"transcript": "ENST00000777416.1",
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},
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],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000226877",
"gene_hgnc_id": null,
"hgvs_c": "n.193-8791G>A",
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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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"intron_rank": 2,
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"gene_symbol": "ENSG00000226877",
"gene_hgnc_id": null,
"hgvs_c": "n.194-17227G>A",
"hgvs_p": null,
"transcript": "ENST00000777560.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "KIF27",
"gene_hgnc_id": 18632,
"hgvs_c": "c.3436-190C>T",
"hgvs_p": null,
"transcript": "XM_011518848.4",
"protein_id": "XP_011517150.1",
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},
{
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"strand": false,
"consequences": [
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},
{
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}
],
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"gnomad_genomes_af": 0.294549,
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"gnomad_genomes_ac": 44716,
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"gnomad_genomes_homalt": 6909,
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"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.035,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000297814.7",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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{
"score": -12,
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000421734.5",
"gene_symbol": "ENSG00000226877",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.356+896G>A",
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},
{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "XR_007061620.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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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
}