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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: 17-1655533-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1655533&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1655533,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000304992.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5804G>T",
"hgvs_p": "p.Arg1935Leu",
"transcript": "NM_006445.4",
"protein_id": "NP_006436.3",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2335,
"cds_start": 5804,
"cds_end": null,
"cds_length": 7008,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": "ENST00000304992.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5804G>T",
"hgvs_p": "p.Arg1935Leu",
"transcript": "ENST00000304992.11",
"protein_id": "ENSP00000304350.6",
"transcript_support_level": 1,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2335,
"cds_start": 5804,
"cds_end": null,
"cds_length": 7008,
"cdna_start": 5903,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": "NM_006445.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5804G>T",
"hgvs_p": "p.Arg1935Leu",
"transcript": "ENST00000572621.5",
"protein_id": "ENSP00000460348.1",
"transcript_support_level": 5,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2335,
"cds_start": 5804,
"cds_end": null,
"cds_length": 7008,
"cdna_start": 6070,
"cdna_end": null,
"cdna_length": 7445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5669G>T",
"hgvs_p": "p.Arg1890Leu",
"transcript": "ENST00000703541.1",
"protein_id": "ENSP00000515363.1",
"transcript_support_level": null,
"aa_start": 1890,
"aa_end": null,
"aa_length": 2290,
"cds_start": 5669,
"cds_end": null,
"cds_length": 6873,
"cdna_start": 5738,
"cdna_end": null,
"cdna_length": 6942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5657G>T",
"hgvs_p": "p.Arg1886Leu",
"transcript": "ENST00000703540.1",
"protein_id": "ENSP00000515362.1",
"transcript_support_level": null,
"aa_start": 1886,
"aa_end": null,
"aa_length": 2286,
"cds_start": 5657,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 5741,
"cdna_end": null,
"cdna_length": 7086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5624G>T",
"hgvs_p": "p.Arg1875Leu",
"transcript": "ENST00000573725.2",
"protein_id": "ENSP00000460849.2",
"transcript_support_level": 5,
"aa_start": 1875,
"aa_end": null,
"aa_length": 2275,
"cds_start": 5624,
"cds_end": null,
"cds_length": 6828,
"cdna_start": 5719,
"cdna_end": null,
"cdna_length": 7073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.1550G>T",
"hgvs_p": "p.Arg517Leu",
"transcript": "ENST00000703537.1",
"protein_id": "ENSP00000515360.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 917,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "c.5804G>T",
"hgvs_p": "p.Arg1935Leu",
"transcript": "XM_024450537.2",
"protein_id": "XP_024306305.1",
"transcript_support_level": null,
"aa_start": 1935,
"aa_end": null,
"aa_length": 2335,
"cds_start": 5804,
"cds_end": null,
"cds_length": 7008,
"cdna_start": 5888,
"cdna_end": null,
"cdna_length": 7265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "n.*5527G>T",
"hgvs_p": null,
"transcript": "ENST00000703538.1",
"protein_id": "ENSP00000515361.1",
"transcript_support_level": null,
"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": 7212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "n.2118G>T",
"hgvs_p": null,
"transcript": "ENST00000703539.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"hgvs_c": "n.*5527G>T",
"hgvs_p": null,
"transcript": "ENST00000703538.1",
"protein_id": "ENSP00000515361.1",
"transcript_support_level": null,
"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": 7212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRPF8",
"gene_hgnc_id": 17340,
"dbsnp": "rs1555550617",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9101436138153076,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.864,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9962,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.715,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000304992.11",
"gene_symbol": "PRPF8",
"hgnc_id": 17340,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5804G>T",
"hgvs_p": "p.Arg1935Leu"
}
],
"clinvar_disease": "Retinal dystrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Retinal dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}