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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: 4-105218230-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105218230&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105218230,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000380013.9",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "NM_001127208.3",
"protein_id": "NP_001120680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2002,
"cds_start": -4,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "ENST00000380013.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000380013.9",
"protein_id": "ENSP00000369351.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2002,
"cds_start": -4,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "NM_001127208.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.18-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000513237.5",
"protein_id": "ENSP00000425443.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2023,
"cds_start": -4,
"cds_end": null,
"cds_length": 6072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000540549.5",
"protein_id": "ENSP00000442788.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2002,
"cds_start": -4,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000413648.2",
"protein_id": "ENSP00000391448.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": -4,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000305737.6",
"protein_id": "ENSP00000306705.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": -4,
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"cds_length": 3498,
"cdna_start": null,
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"cdna_length": 9233,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "NM_017628.4",
"protein_id": "NP_060098.3",
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"aa_start": null,
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"aa_length": 1165,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.-46-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000514870.1",
"protein_id": "ENSP00000426885.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.-46-15667T>C",
"hgvs_p": null,
"transcript": "ENST00000265149.9",
"protein_id": "ENSP00000265149.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.228-40558A>G",
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"transcript": "ENST00000776423.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "TET2-AS1",
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"hgvs_c": "n.265-40558A>G",
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"transcript": "ENST00000776424.1",
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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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],
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{
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],
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"gnomad_genomes_af": 0.116917,
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"gnomad_genomes_ac": 17777,
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"computational_score_selected": -0.9399999976158142,
"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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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.405,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380013.9",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR,AD",
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{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NR_126420.1",
"gene_symbol": "TET2-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.319-40558A>G",
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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
}