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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: 6-158146034-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158146034&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158146034,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000647468.2",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.487+748T>C",
"hgvs_p": null,
"transcript": "NM_032861.4",
"protein_id": "NP_116250.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "ENST00000647468.2",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.487+748T>C",
"hgvs_p": null,
"transcript": "ENST00000647468.2",
"protein_id": "ENSP00000496731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "NM_032861.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.487+748T>C",
"hgvs_p": null,
"transcript": "ENST00000606965.5",
"protein_id": "ENSP00000475808.1",
"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": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*321+748T>C",
"hgvs_p": null,
"transcript": "ENST00000607742.5",
"protein_id": "ENSP00000475523.1",
"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": 5155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.2170T>C",
"hgvs_p": null,
"transcript": "ENST00000607000.1",
"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": 2284,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.397+748T>C",
"hgvs_p": null,
"transcript": "ENST00000642244.1",
"protein_id": "ENSP00000493554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2729,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.487+748T>C",
"hgvs_p": null,
"transcript": "ENST00000644972.1",
"protein_id": "ENSP00000496451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4534,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.358+748T>C",
"hgvs_p": null,
"transcript": "ENST00000646410.1",
"protein_id": "ENSP00000494205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": -4,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2638,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.487+748T>C",
"hgvs_p": null,
"transcript": "ENST00000642903.1",
"protein_id": "ENSP00000493559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2022,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.223+748T>C",
"hgvs_p": null,
"transcript": "ENST00000646208.1",
"protein_id": "ENSP00000493723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": -4,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
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"cdna_length": 3633,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.487+748T>C",
"hgvs_p": null,
"transcript": "ENST00000367101.5",
"protein_id": "ENSP00000356068.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
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"cds_length": 1596,
"cdna_start": null,
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"cdna_length": 1907,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
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"gene_symbol": "SERAC1",
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"hgvs_c": "n.*321+748T>C",
"hgvs_p": null,
"transcript": "ENST00000607071.6",
"protein_id": "ENSP00000475855.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
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"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*321+748T>C",
"hgvs_p": null,
"transcript": "ENST00000645077.1",
"protein_id": "ENSP00000496113.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
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"gene_symbol": "SERAC1",
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"hgvs_c": "n.*190-1614T>C",
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"transcript": "ENST00000645172.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "SERAC1",
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"transcript": "ENST00000646190.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
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"gene_symbol": "SERAC1",
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"hgvs_c": "n.*321+748T>C",
"hgvs_p": null,
"transcript": "ENST00000646562.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "SERAC1",
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"hgvs_c": "n.*131+748T>C",
"hgvs_p": null,
"transcript": "ENST00000648111.1",
"protein_id": "ENSP00000497275.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.611+748T>C",
"hgvs_p": null,
"transcript": "NR_073096.2",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
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"hgvs_c": "c.487+748T>C",
"hgvs_p": null,
"transcript": "XM_024446573.2",
"protein_id": "XP_024302341.1",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SERAC1",
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"hgvs_c": "c.277+748T>C",
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},
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"consequences": [
"intron_variant"
],
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.277+748T>C",
"hgvs_p": null,
"transcript": "XM_011536198.4",
"protein_id": "XP_011534500.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.688+748T>C",
"hgvs_p": null,
"transcript": "XR_007059349.1",
"protein_id": null,
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}
],
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"dbsnp": "rs9295316",
"frequency_reference_population": 0.0000065715976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.051,
"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": -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": "ENST00000647468.2",
"gene_symbol": "SERAC1",
"hgnc_id": 21061,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.487+748T>C",
"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
}