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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: 17-76540146-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76540146&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76540146,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000592014.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "NM_001077620.3",
"protein_id": "NP_001071088.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": "ENST00000592014.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "ENST00000592014.6",
"protein_id": "ENSP00000467661.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": "NM_001077620.3",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.46-359G>A",
"hgvs_p": null,
"transcript": "ENST00000397633.7",
"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": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "ENST00000586148.1",
"protein_id": "ENSP00000465932.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_017025013.2",
"protein_id": "XP_016880502.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_017025014.2",
"protein_id": "XP_016880503.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_017025015.2",
"protein_id": "XP_016880504.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_047436657.1",
"protein_id": "XP_047292613.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_047436658.1",
"protein_id": "XP_047292614.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr",
"transcript": "XM_047436659.1",
"protein_id": "XP_047292615.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 54,
"cds_start": 5,
"cds_end": null,
"cds_length": 165,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1017,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.-52-8455C>T",
"hgvs_p": null,
"transcript": "ENST00000589145.1",
"protein_id": "ENSP00000468559.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 788,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.93-359G>A",
"hgvs_p": null,
"transcript": "ENST00000465808.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 822,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.445-359G>A",
"hgvs_p": null,
"transcript": "ENST00000590555.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 673,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.249-359G>A",
"hgvs_p": null,
"transcript": "ENST00000592432.5",
"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,
"cdna_end": null,
"cdna_length": 3372,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.249-359G>A",
"hgvs_p": null,
"transcript": "NR_033357.2",
"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": 2065,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.-52-8455C>T",
"hgvs_p": null,
"transcript": "XM_017024116.2",
"protein_id": "XP_016879605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"dbsnp": "rs121918369",
"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": 0.94658362865448,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.825,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.636,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000592014.6",
"gene_symbol": "PRCD",
"hgnc_id": 32528,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Cys2Tyr"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000589145.1",
"gene_symbol": "CYGB",
"hgnc_id": 16505,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-52-8455C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Retinitis pigmentosa 36,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Retinitis pigmentosa 36|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}