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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: 18-34876111-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34876111&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34876111,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000444659.6",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1903+713T>C",
"hgvs_p": null,
"transcript": "NM_001386795.1",
"protein_id": "NP_001373724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "ENST00000444659.6",
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1903+713T>C",
"hgvs_p": null,
"transcript": "ENST00000444659.6",
"protein_id": "ENSP00000405819.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "NM_001386795.1",
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1642+713T>C",
"hgvs_p": null,
"transcript": "ENST00000598334.5",
"protein_id": "ENSP00000470152.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3201,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1663+713T>C",
"hgvs_p": null,
"transcript": "ENST00000399121.9",
"protein_id": "ENSP00000382072.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
"cds_end": null,
"cds_length": 2073,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1651+713T>C",
"hgvs_p": null,
"transcript": "ENST00000598142.5",
"protein_id": "ENSP00000470716.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2509,
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1642+713T>C",
"hgvs_p": null,
"transcript": "ENST00000595022.5",
"protein_id": "ENSP00000473078.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6016,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.766+713T>C",
"hgvs_p": null,
"transcript": "ENST00000591182.5",
"protein_id": "ENSP00000467720.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1903+713T>C",
"hgvs_p": null,
"transcript": "NM_001386788.1",
"protein_id": "NP_001373717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4038,
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1903+713T>C",
"hgvs_p": null,
"transcript": "ENST00000679796.1",
"protein_id": "ENSP00000506659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3452,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1822+713T>C",
"hgvs_p": null,
"transcript": "NM_001390.5",
"protein_id": "NP_001381.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
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"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1822+713T>C",
"hgvs_p": null,
"transcript": "ENST00000399113.7",
"protein_id": "ENSP00000382064.3",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1642+713T>C",
"hgvs_p": null,
"transcript": "NM_001198938.2",
"protein_id": "NP_001185867.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1642+713T>C",
"hgvs_p": null,
"transcript": "NM_001386753.1",
"protein_id": "NP_001373682.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1732+713T>C",
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"transcript": "NM_001386754.1",
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},
{
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],
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"transcript": "NM_001386755.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "DTNA",
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"hgvs_c": "c.1732+713T>C",
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"transcript": "NM_001386756.1",
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},
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],
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"gene_symbol": "DTNA",
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"hgvs_c": "c.1732+713T>C",
"hgvs_p": null,
"transcript": "NM_001386757.1",
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},
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],
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"intron_rank": 16,
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"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1732+713T>C",
"hgvs_p": null,
"transcript": "NM_001386758.1",
"protein_id": "NP_001373687.1",
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},
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 16,
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"gene_symbol": "DTNA",
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"hgvs_c": "c.1732+713T>C",
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"transcript": "NM_001386759.1",
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},
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],
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"gene_symbol": "DTNA",
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"hgvs_c": "c.1732+713T>C",
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"transcript": "ENST00000680822.1",
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},
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],
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"gene_symbol": "DTNA",
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"hgvs_c": "c.1732+713T>C",
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"transcript": "ENST00000684266.1",
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},
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1729+713T>C",
"hgvs_p": null,
"transcript": "NM_001386760.1",
"protein_id": "NP_001373689.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1663+713T>C",
"hgvs_p": null,
"transcript": "NM_001198939.2",
"protein_id": "NP_001185868.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
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],
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},
{
"aa_ref": null,
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"canonical": false,
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],
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"gene_symbol": "DTNA",
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"transcript": "XM_047437333.1",
"protein_id": "XP_047293289.1",
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},
{
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"canonical": false,
"protein_coding": true,
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"intron_variant"
],
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"gene_symbol": "DTNA",
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"transcript": "XM_047437334.1",
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}
],
"gene_symbol": "DTNA",
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"dbsnp": "rs587780930",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.238,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000444659.6",
"gene_symbol": "DTNA",
"hgnc_id": 3057,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1903+713T>C",
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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
}