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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: 10-84397747-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84397747&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84397747,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000372088.8",
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "NM_001284240.2",
"protein_id": "NP_001271169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7653,
"mane_select": "ENST00000372088.8",
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "ENST00000372088.8",
"protein_id": "ENSP00000361160.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7653,
"mane_select": "NM_001284240.2",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "NM_001351290.2",
"protein_id": "NP_001338219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": -4,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7826,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "NM_001351292.2",
"protein_id": "NP_001338221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7778,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "NM_018999.4",
"protein_id": "NP_061872.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7738,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "ENST00000224756.12",
"protein_id": "ENSP00000224756.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7664,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "n.90+3805A>C",
"hgvs_p": null,
"transcript": "ENST00000494144.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1562,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "XM_017016340.3",
"protein_id": "XP_016871829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7574,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "XM_047425365.1",
"protein_id": "XP_047281321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
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"cdna_length": 17847,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "XM_005269905.5",
"protein_id": "XP_005269962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7786,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "XM_011539871.4",
"protein_id": "XP_011538173.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 2256,
"cdna_start": null,
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"cdna_length": 5345,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
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"transcript": "XM_047425366.1",
"protein_id": "XP_047281322.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
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"transcript": "XM_017016341.2",
"protein_id": "XP_016871830.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1615-20024A>C",
"hgvs_p": null,
"transcript": "XM_011539872.3",
"protein_id": "XP_011538174.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1614+23932A>C",
"hgvs_p": null,
"transcript": "XM_047425367.1",
"protein_id": "XP_047281323.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.-49+3805A>C",
"hgvs_p": null,
"transcript": "XM_006717894.2",
"protein_id": "XP_006717957.1",
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},
{
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.-49+3842A>C",
"hgvs_p": null,
"transcript": "XM_006717895.2",
"protein_id": "XP_006717958.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.-49+3846A>C",
"hgvs_p": null,
"transcript": "XM_011539873.1",
"protein_id": "XP_011538175.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"hgvs_c": "c.1+23932A>C",
"hgvs_p": null,
"transcript": "XM_047425368.1",
"protein_id": "XP_047281324.1",
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"cdna_start": null,
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}
],
"gene_symbol": "CCSER2",
"gene_hgnc_id": 29197,
"dbsnp": "rs10509497",
"frequency_reference_population": 0.35936412,
"hom_count_reference_population": 11643,
"allele_count_reference_population": 54660,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.359364,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 54660,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11643,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.495,
"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": "ENST00000372088.8",
"gene_symbol": "CCSER2",
"hgnc_id": 29197,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1615-20024A>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
}