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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: 4-47936816-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47936816&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47936816,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000514170.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly",
"transcript": "NM_001379270.1",
"protein_id": "NP_001366199.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 686,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "ENST00000514170.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly",
"transcript": "ENST00000514170.7",
"protein_id": "ENSP00000426862.3",
"transcript_support_level": 5,
"aa_start": 556,
"aa_end": null,
"aa_length": 686,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "NM_001379270.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly",
"transcript": "ENST00000402813.9",
"protein_id": "ENSP00000384264.5",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 686,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly",
"transcript": "NM_000087.5",
"protein_id": "NP_000078.3",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 686,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly",
"transcript": "NM_001142564.2",
"protein_id": "NP_001136036.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 686,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly",
"transcript": "ENST00000420489.7",
"protein_id": "ENSP00000389881.3",
"transcript_support_level": 2,
"aa_start": 556,
"aa_end": null,
"aa_length": 686,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "XM_005248049.5",
"protein_id": "XP_005248106.3",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 690,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "XM_011513623.3",
"protein_id": "XP_011511925.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 690,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2818,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIPAL1",
"gene_hgnc_id": 27194,
"hgvs_c": "n.478+22112G>C",
"hgvs_p": null,
"transcript": "ENST00000500571.2",
"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": 596,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIPAL1",
"gene_hgnc_id": 27194,
"hgvs_c": "n.563+22112G>C",
"hgvs_p": null,
"transcript": "ENST00000513724.1",
"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": 690,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC101927157",
"gene_hgnc_id": null,
"hgvs_c": "n.478+22112G>C",
"hgvs_p": null,
"transcript": "NR_125879.1",
"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": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"dbsnp": "rs567961453",
"frequency_reference_population": 6.84075e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84075e-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": 0.9627683162689209,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.948,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.83,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000514170.7",
"gene_symbol": "CNGA1",
"hgnc_id": 2148,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Arg556Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000513724.1",
"gene_symbol": "NIPAL1",
"hgnc_id": 27194,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.563+22112G>C",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_125879.1",
"gene_symbol": "LOC101927157",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.478+22112G>C",
"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
}