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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: 8-22221864-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22221864&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22221864,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014759.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "NM_014759.5",
"protein_id": "NP_055574.3",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": "ENST00000454243.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014759.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000454243.7",
"protein_id": "ENSP00000415491.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": "NM_014759.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454243.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000321613.7",
"protein_id": "ENSP00000320017.3",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321613.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "NM_001099335.2",
"protein_id": "NP_001092805.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099335.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "NM_001363311.2",
"protein_id": "NP_001350240.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363311.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "NM_001363312.2",
"protein_id": "NP_001350241.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363312.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000934692.1",
"protein_id": "ENSP00000604751.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934692.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000934693.1",
"protein_id": "ENSP00000604752.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934693.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000934694.1",
"protein_id": "ENSP00000604753.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934694.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg",
"transcript": "ENST00000954726.1",
"protein_id": "ENSP00000624785.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 330,
"cds_start": 482,
"cds_end": null,
"cds_length": 993,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954726.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Gln113Arg",
"transcript": "ENST00000523252.1",
"protein_id": "ENSP00000430870.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 247,
"cds_start": 338,
"cds_end": null,
"cds_length": 744,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523252.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Gln28Arg",
"transcript": "XM_017014102.3",
"protein_id": "XP_016869591.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 197,
"cds_start": 83,
"cds_end": null,
"cds_length": 594,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014102.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"hgvs_c": "n.815A>G",
"hgvs_p": null,
"transcript": "NR_156475.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156475.2"
}
],
"gene_symbol": "PHYHIP",
"gene_hgnc_id": 16865,
"dbsnp": "rs746608022",
"frequency_reference_population": 0.0000058328083,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000503255,
"gnomad_genomes_af": 0.0000131536,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10099968314170837,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.953,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "NM_014759.5",
"gene_symbol": "PHYHIP",
"hgnc_id": 16865,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.482A>G",
"hgvs_p": "p.Gln161Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}