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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: 5-50801280-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=50801280&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 50801280,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000281631.10",
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "NM_024615.4",
"protein_id": "NP_078891.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7475,
"mane_select": "ENST00000281631.10",
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000281631.10",
"protein_id": "ENSP00000281631.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7475,
"mane_select": "NM_024615.4",
"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": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000505697.6",
"protein_id": "ENSP00000422217.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2747,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000514067.6",
"protein_id": "ENSP00000424814.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2829,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.1591+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000503561.7",
"protein_id": null,
"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": 2818,
"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": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1698+4047T>G",
"hgvs_p": null,
"transcript": "NM_001427055.1",
"protein_id": "NP_001413984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7388,
"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": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "NM_001178055.2",
"protein_id": "NP_001171526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7166,
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1512+4047T>G",
"hgvs_p": null,
"transcript": "NM_001331028.2",
"protein_id": "NP_001317957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7113,
"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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1512+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000505554.5",
"protein_id": "ENSP00000423946.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "NM_001178056.2",
"protein_id": "NP_001171527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7349,
"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": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.1596+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000511363.6",
"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,
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"cdna_length": 2860,
"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": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.*746+4047T>G",
"hgvs_p": null,
"transcript": "ENST00000515166.5",
"protein_id": "ENSP00000424485.1",
"transcript_support_level": 5,
"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": 2730,
"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": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "XM_011543631.4",
"protein_id": "XP_011541933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
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"cdna_start": null,
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"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1698+4047T>G",
"hgvs_p": null,
"transcript": "XM_011543632.4",
"protein_id": "XP_011541934.3",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1698+4047T>G",
"hgvs_p": null,
"transcript": "XM_011543633.4",
"protein_id": "XP_011541935.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1575+4047T>G",
"hgvs_p": null,
"transcript": "XM_047417705.1",
"protein_id": "XP_047273661.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1395+4047T>G",
"hgvs_p": null,
"transcript": "XM_011543634.3",
"protein_id": "XP_011541936.1",
"transcript_support_level": null,
"aa_start": 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": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1395+4047T>G",
"hgvs_p": null,
"transcript": "XM_047417706.1",
"protein_id": "XP_047273662.1",
"transcript_support_level": null,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 16,
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"gene_symbol": "PARP8",
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"hgvs_c": "c.1395+4047T>G",
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"transcript": "XM_047417707.1",
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},
{
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"protein_coding": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
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"gene_symbol": "PARP8",
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"hgvs_c": "c.1512+4047T>G",
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"transcript": "XM_047417708.1",
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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": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.993+4047T>G",
"hgvs_p": null,
"transcript": "XM_011543643.3",
"protein_id": "XP_011541945.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"dbsnp": "rs847228",
"frequency_reference_population": 0.000072331306,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000723313,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.207,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000281631.10",
"gene_symbol": "PARP8",
"hgnc_id": 26124,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1575+4047T>G",
"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
}