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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: 8-130407414-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=130407414&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 130407414,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000518721.6",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "NM_018482.4",
"protein_id": "NP_060952.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": "ENST00000518721.6",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "ENST00000518721.6",
"protein_id": "ENSP00000429900.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": "NM_018482.4",
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "NM_001362924.1",
"protein_id": "NP_001349853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": -4,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6254,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-150-5444C>T",
"hgvs_p": null,
"transcript": "NM_001247996.2",
"protein_id": "NP_001234925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": -4,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6361,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-150-5444C>T",
"hgvs_p": null,
"transcript": "ENST00000357668.2",
"protein_id": "ENSP00000350297.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": -4,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6344,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "NM_001362925.2",
"protein_id": "NP_001349854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6097,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "NM_001362926.2",
"protein_id": "NP_001349855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1072,
"cds_start": -4,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6088,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "n.-27-5444C>T",
"hgvs_p": null,
"transcript": "ENST00000520927.5",
"protein_id": "ENSP00000428629.1",
"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": 742,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "n.-27-5444C>T",
"hgvs_p": null,
"transcript": "ENST00000524299.1",
"protein_id": "ENSP00000429614.1",
"transcript_support_level": 4,
"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": 550,
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-28+1630C>T",
"hgvs_p": null,
"transcript": "XM_011517052.3",
"protein_id": "XP_011515354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1132,
"cds_start": -4,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6071,
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "XM_047421799.1",
"protein_id": "XP_047277755.1",
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
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"transcript": "XM_047421800.1",
"protein_id": "XP_047277756.1",
"transcript_support_level": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-77-5444C>T",
"hgvs_p": null,
"transcript": "XM_017013468.2",
"protein_id": "XP_016868957.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "XM_047421804.1",
"protein_id": "XP_047277760.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "XM_047421805.1",
"protein_id": "XP_047277761.1",
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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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"intron_rank": 1,
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"gene_symbol": "ASAP1",
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"hgvs_c": "c.-77-5444C>T",
"hgvs_p": null,
"transcript": "XM_047421806.1",
"protein_id": "XP_047277762.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-77-5444C>T",
"hgvs_p": null,
"transcript": "XM_047421810.1",
"protein_id": "XP_047277766.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"hgvs_c": "c.-27-5444C>T",
"hgvs_p": null,
"transcript": "XM_047421812.1",
"protein_id": "XP_047277768.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "ASAP1",
"gene_hgnc_id": 2720,
"dbsnp": "rs17215817",
"frequency_reference_population": 0.3768805,
"hom_count_reference_population": 12344,
"allele_count_reference_population": 57319,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.37688,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 57319,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 12344,
"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": -0.494,
"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": "ENST00000518721.6",
"gene_symbol": "ASAP1",
"hgnc_id": 2720,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-27-5444C>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
}