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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: 8-52653258-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=52653258&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 52653258,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000025008.10",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "NM_014781.5",
"protein_id": "NP_055596.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1594,
"cds_start": -4,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": "ENST00000025008.10",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "ENST00000025008.10",
"protein_id": "ENSP00000025008.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1594,
"cds_start": -4,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": "NM_014781.5",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "ENST00000435644.6",
"protein_id": "ENSP00000396067.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": -4,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6614,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "NM_001083617.2",
"protein_id": "NP_001077086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": -4,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6627,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "n.386-29787C>T",
"hgvs_p": null,
"transcript": "ENST00000521611.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 528,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_017014103.3",
"protein_id": "XP_016869592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1601,
"cds_start": -4,
"cds_end": null,
"cds_length": 4806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6657,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_017014104.2",
"protein_id": "XP_016869593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1601,
"cds_start": -4,
"cds_end": null,
"cds_length": 4806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6877,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_047422494.1",
"protein_id": "XP_047278450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1601,
"cds_start": -4,
"cds_end": null,
"cds_length": 4806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6665,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_047422495.1",
"protein_id": "XP_047278451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1601,
"cds_start": -4,
"cds_end": null,
"cds_length": 4806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_017014105.3",
"protein_id": "XP_016869594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1598,
"cds_start": -4,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
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"cdna_length": 6648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_011517643.2",
"protein_id": "XP_011515945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1594,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "RB1CC1",
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"hgvs_c": "c.3821+2750C>T",
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"transcript": "XM_017014106.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 16,
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"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
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"transcript": "XM_017014107.3",
"protein_id": "XP_016869596.1",
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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": 24,
"intron_rank": 15,
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"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
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"transcript": "XM_017014108.3",
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},
{
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],
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"intron_rank": 15,
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"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_011517644.4",
"protein_id": "XP_011515946.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
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"transcript": "XM_011517645.3",
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},
{
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],
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"gene_symbol": "RB1CC1",
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"hgvs_c": "c.3665+2750C>T",
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"transcript": "XM_017014109.2",
"protein_id": "XP_016869598.1",
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},
{
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"consequences": [
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],
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"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "c.3821+2750C>T",
"hgvs_p": null,
"transcript": "XM_011517647.4",
"protein_id": "XP_011515949.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 15,
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"gene_symbol": "RB1CC1",
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},
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],
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"gene_symbol": "RB1CC1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "RB1CC1",
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"hgvs_c": "c.2192+2750C>T",
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"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"hgvs_c": "n.4349-1622C>T",
"hgvs_p": null,
"transcript": "XR_928826.4",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "RB1CC1",
"gene_hgnc_id": 15574,
"dbsnp": "rs13250856",
"frequency_reference_population": 0.2368788,
"hom_count_reference_population": 5318,
"allele_count_reference_population": 36016,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.236879,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 36016,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5318,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.06,
"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": "ENST00000025008.10",
"gene_symbol": "RB1CC1",
"hgnc_id": 15574,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3821+2750C>T",
"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
}