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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: 10-122013392-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=122013392&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 122013392,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_206862.4",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "NM_206862.4",
"protein_id": "NP_996744.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2948,
"cds_start": null,
"cds_end": null,
"cds_length": 8847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369005.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206862.4"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "ENST00000369005.6",
"protein_id": "ENSP00000358001.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2948,
"cds_start": null,
"cds_end": null,
"cds_length": 8847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206862.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369005.6"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "ENST00000515273.5",
"protein_id": "ENSP00000424467.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2875,
"cds_start": null,
"cds_end": null,
"cds_length": 8628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515273.5"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "ENST00000515603.5",
"protein_id": "ENSP00000427618.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2826,
"cds_start": null,
"cds_end": null,
"cds_length": 8481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515603.5"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "ENST00000513429.5",
"protein_id": "ENSP00000425062.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": null,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513429.5"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "NM_001438364.1",
"protein_id": "NP_001425293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2923,
"cds_start": null,
"cds_end": null,
"cds_length": 8772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438364.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "NM_001291877.2",
"protein_id": "NP_001278806.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2875,
"cds_start": null,
"cds_end": null,
"cds_length": 8628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291877.2"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "NM_001438366.1",
"protein_id": "NP_001425295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2867,
"cds_start": null,
"cds_end": null,
"cds_length": 8604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438366.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "NM_001291876.2",
"protein_id": "NP_001278805.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2826,
"cds_start": null,
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"cds_length": 8481,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291876.2"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "ENST00000866908.1",
"protein_id": "ENSP00000536967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2826,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866908.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "NM_001438369.1",
"protein_id": "NP_001425298.1",
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"feature": "NM_001438369.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TACC2",
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"transcript": "ENST00000866910.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "TACC2",
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"hgvs_c": "c.-45-8545G>C",
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"transcript": "NM_206861.3",
"protein_id": "NP_996743.1",
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"feature": "NM_206861.3"
},
{
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],
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"gene_symbol": "TACC2",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 1,
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"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "XM_024447756.1",
"protein_id": "XP_024303524.1",
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},
{
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],
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"gene_symbol": "TACC2",
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},
{
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],
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"exon_count": 24,
"intron_rank": 1,
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"gene_symbol": "TACC2",
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"hgvs_c": "c.-45-8545G>C",
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"transcript": "XM_005269388.1",
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},
{
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
"gene_hgnc_id": 11523,
"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "XM_017015484.1",
"protein_id": "XP_016870973.1",
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},
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],
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"gene_symbol": "TACC2",
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"hgvs_c": "c.-45-8545G>C",
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},
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],
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},
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],
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"gene_symbol": "TACC2",
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"hgvs_c": "c.-45-8545G>C",
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"protein_id": "XP_005269449.1",
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"biotype": "protein_coding",
"feature": "XM_005269392.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TACC2",
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"hgvs_c": "c.-45-8545G>C",
"hgvs_p": null,
"transcript": "XM_024447760.1",
"protein_id": "XP_024303528.1",
"transcript_support_level": null,
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"feature": "XM_024447760.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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{
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{
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{
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"biotype": "pseudogene",
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],
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"allele_count_reference_population": 0,
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"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_206862.4",
"gene_symbol": "TACC2",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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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
}