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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: 10-73480219-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73480219&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73480219,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000360663.10",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "NM_021132.4",
"protein_id": "NP_066955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": "ENST00000360663.10",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "ENST00000360663.10",
"protein_id": "ENSP00000353881.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": "NM_021132.4",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "ENST00000394829.6",
"protein_id": "ENSP00000378306.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3149,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "ENST00000394828.6",
"protein_id": "ENSP00000378305.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3119,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "NM_001142353.3",
"protein_id": "NP_001135825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3522,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "NM_001142354.3",
"protein_id": "NP_001135826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3492,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "NM_001289968.2",
"protein_id": "NP_001276897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "ENST00000342558.3",
"protein_id": "ENSP00000343147.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2418,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-292-251G>A",
"hgvs_p": null,
"transcript": "NM_001289969.2",
"protein_id": "NP_001276898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2556,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "XM_047425426.1",
"protein_id": "XP_047281382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
"hgvs_p": null,
"transcript": "XM_047425427.1",
"protein_id": "XP_047281383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.86-702G>A",
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"transcript": "XM_005269944.2",
"protein_id": "XP_005270001.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-173-702G>A",
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"transcript": "XM_047425428.1",
"protein_id": "XP_047281384.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-173-702G>A",
"hgvs_p": null,
"transcript": "XM_047425429.1",
"protein_id": "XP_047281385.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-292-251G>A",
"hgvs_p": null,
"transcript": "XM_047425430.1",
"protein_id": "XP_047281386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-173-702G>A",
"hgvs_p": null,
"transcript": "XM_047425431.1",
"protein_id": "XP_047281387.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "PPP3CB",
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"hgvs_c": "c.-173-702G>A",
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"transcript": "XM_047425432.1",
"protein_id": "XP_047281388.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-173-702G>A",
"hgvs_p": null,
"transcript": "XM_047425433.1",
"protein_id": "XP_047281389.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"hgvs_c": "c.-173-702G>A",
"hgvs_p": null,
"transcript": "XM_047425434.1",
"protein_id": "XP_047281390.1",
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"cds_start": -4,
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}
],
"gene_symbol": "PPP3CB",
"gene_hgnc_id": 9315,
"dbsnp": "rs11000671",
"frequency_reference_population": 0.14891002,
"hom_count_reference_population": 2693,
"allele_count_reference_population": 22528,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.14891,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 22528,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2693,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.991,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000360663.10",
"gene_symbol": "PPP3CB",
"hgnc_id": 9315,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.86-702G>A",
"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
}