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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: 5-68279710-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68279710&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68279710,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000521381.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 732,
"cds_start": 611,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 6641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.536G>C",
"hgvs_p": "p.Ser179Thr",
"transcript": "ENST00000697457.1",
"protein_id": "ENSP00000513315.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 699,
"cds_start": 536,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 6439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Ser29Thr",
"transcript": "ENST00000697460.1",
"protein_id": "ENSP00000513318.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 549,
"cds_start": 86,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.518G>C",
"hgvs_p": "p.Ser173Thr",
"transcript": "ENST00000697556.1",
"protein_id": "ENSP00000513334.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 405,
"cds_start": 518,
"cds_end": null,
"cds_length": 1220,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.86G>C",
"hgvs_p": "p.Ser29Thr",
"transcript": "ENST00000520675.1",
"protein_id": "ENSP00000428566.2",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 53,
"cds_start": 86,
"cds_end": null,
"cds_length": 164,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "XM_005248542.4",
"protein_id": "XP_005248599.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 6979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "XM_017009585.3",
"protein_id": "XP_016865074.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 7804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr",
"transcript": "XM_047417315.1",
"protein_id": "XP_047273271.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 724,
"cds_start": 611,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.284G>C",
"hgvs_p": "p.Ser95Thr",
"transcript": "XM_047417316.1",
"protein_id": "XP_047273272.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 615,
"cds_start": 284,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 9724,
"cdna_end": null,
"cdna_length": 15508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.284G>C",
"hgvs_p": "p.Ser95Thr",
"transcript": "XM_047417317.1",
"protein_id": "XP_047273273.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 615,
"cds_start": 284,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 9673,
"cdna_end": null,
"cdna_length": 15457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"dbsnp": "rs771919405",
"frequency_reference_population": 6.840722e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84072e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09196269512176514,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.559,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521381.6",
"gene_symbol": "PIK3R1",
"hgnc_id": 8979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.611G>C",
"hgvs_p": "p.Ser204Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}