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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: 18-24139363-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24139363&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 24139363,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000399496.8",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "NM_153769.3",
"protein_id": "NP_722453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": "ENST00000399496.8",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000399496.8",
"protein_id": "ENSP00000382419.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": "NM_153769.3",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000621648.4",
"protein_id": "ENSP00000483621.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2226,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000399481.6",
"protein_id": "ENSP00000382404.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2252,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-96+245C>T",
"hgvs_p": null,
"transcript": "ENST00000327201.10",
"protein_id": "ENSP00000317095.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1109,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000415309.6",
"protein_id": "ENSP00000399973.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 824,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000581397.5",
"protein_id": "ENSP00000462811.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 634,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "NM_012189.4",
"protein_id": "NP_036321.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2262,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000463087.5",
"protein_id": "ENSP00000432870.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1792,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000486759.6",
"protein_id": "ENSP00000431142.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
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"cds_length": 1482,
"cdna_start": null,
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"cdna_length": 1664,
"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": 5,
"intron_rank": 1,
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"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "NM_153768.3",
"protein_id": "NP_722452.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "CABYR",
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"hgvs_c": "c.-96+245C>T",
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"transcript": "NM_001308231.2",
"protein_id": "NP_001295160.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-96+245C>T",
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"transcript": "ENST00000627314.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-96+245C>T",
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"transcript": "NM_138643.3",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "CABYR",
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"hgvs_c": "c.-25+245C>T",
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"transcript": "NM_153770.3",
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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": 3,
"intron_rank": 1,
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"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-410+245C>T",
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"transcript": "ENST00000585037.5",
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},
{
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],
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"gene_symbol": "CABYR",
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"hgvs_c": "c.-431+245C>T",
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"transcript": "ENST00000577705.1",
"protein_id": "ENSP00000463781.1",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "n.-25+245C>T",
"hgvs_p": null,
"transcript": "ENST00000579956.5",
"protein_id": "ENSP00000464595.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
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"hgvs_c": "n.-25+245C>T",
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"transcript": "ENST00000581872.5",
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},
{
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],
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"transcript": "ENST00000584752.5",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CABYR",
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"hgvs_c": "c.-25+8C>T",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-25+245C>T",
"hgvs_p": null,
"transcript": "XM_005258247.2",
"protein_id": "XP_005258304.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-181C>T",
"hgvs_p": null,
"transcript": "ENST00000399499.5",
"protein_id": "ENSP00000382421.1",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"hgvs_c": "c.-181C>T",
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"transcript": "NM_138644.3",
"protein_id": "NP_619585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
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"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CABYR",
"gene_hgnc_id": 15569,
"dbsnp": "rs2278664",
"frequency_reference_population": 0.4719248,
"hom_count_reference_population": 20421,
"allele_count_reference_population": 71759,
"gnomad_exomes_af": 0.647059,
"gnomad_genomes_af": 0.471807,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 71693,
"gnomad_exomes_homalt": 24,
"gnomad_genomes_homalt": 20397,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.214,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": "ENST00000399496.8",
"gene_symbol": "CABYR",
"hgnc_id": 15569,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-25+245C>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
}