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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: 17-30056691-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30056691&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30056691,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000394835.8",
"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": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2365+535A>G",
"hgvs_p": null,
"transcript": "NM_198529.4",
"protein_id": "NP_940931.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": -4,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": "ENST00000394835.8",
"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": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2365+535A>G",
"hgvs_p": null,
"transcript": "ENST00000394835.8",
"protein_id": "ENSP00000378312.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": -4,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": "NM_198529.4",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.1759+535A>G",
"hgvs_p": null,
"transcript": "ENST00000588978.1",
"protein_id": "ENSP00000465109.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": -4,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.2365+535A>G",
"hgvs_p": null,
"transcript": "ENST00000440741.7",
"protein_id": "ENSP00000393095.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3965,
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.1783+535A>G",
"hgvs_p": null,
"transcript": "ENST00000419434.5",
"protein_id": "ENSP00000417009.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": -4,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3986,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2197+535A>G",
"hgvs_p": null,
"transcript": "NM_001145053.2",
"protein_id": "NP_001138525.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3703,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2197+535A>G",
"hgvs_p": null,
"transcript": "ENST00000536908.6",
"protein_id": "ENSP00000440619.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2826,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.*1361+535A>G",
"hgvs_p": null,
"transcript": "ENST00000423598.6",
"protein_id": "ENSP00000392831.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2454,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.164+535A>G",
"hgvs_p": null,
"transcript": "ENST00000581617.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 718,
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "n.2528+535A>G",
"hgvs_p": null,
"transcript": "NR_026738.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2371+535A>G",
"hgvs_p": null,
"transcript": "XM_011524759.2",
"protein_id": "XP_011523061.1",
"transcript_support_level": null,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2371+535A>G",
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"transcript": "XM_011524763.3",
"protein_id": "XP_011523065.1",
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
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"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2203+535A>G",
"hgvs_p": null,
"transcript": "XM_024450742.1",
"protein_id": "XP_024306510.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
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"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2197+535A>G",
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"transcript": "XM_024450743.1",
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},
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],
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"gene_symbol": "EFCAB5",
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"hgvs_c": "c.1594+535A>G",
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"transcript": "XM_017024591.2",
"protein_id": "XP_016880080.1",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "EFCAB5",
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"hgvs_c": "c.1594+535A>G",
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],
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"gene_symbol": "EFCAB5",
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"hgvs_c": "c.2371+535A>G",
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"transcript": "XM_011524765.2",
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},
{
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"strand": true,
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],
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"intron_rank": 12,
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"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2371+535A>G",
"hgvs_p": null,
"transcript": "XM_047435946.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "EFCAB5",
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"hgvs_c": "c.2197+535A>G",
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"transcript": "XM_047435947.1",
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],
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"gene_symbol": "EFCAB5",
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},
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],
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"gene_symbol": "EFCAB5",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2371+535A>G",
"hgvs_p": null,
"transcript": "XM_047435949.1",
"protein_id": "XP_047291905.1",
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"aa_start": 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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EFCAB5",
"gene_hgnc_id": 24801,
"hgvs_c": "c.2365+535A>G",
"hgvs_p": null,
"transcript": "XM_017024592.2",
"protein_id": "XP_016880081.1",
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"biotype": null,
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}
],
"gene_symbol": "EFCAB5",
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"dbsnp": "rs4436830",
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"hom_count_reference_population": 2827,
"allele_count_reference_population": 25489,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.167457,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 25489,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2827,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.398,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000394835.8",
"gene_symbol": "EFCAB5",
"hgnc_id": 24801,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2365+535A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}