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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: 4-47949866-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47949866&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47949866,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000514170.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "NM_001379270.1",
"protein_id": "NP_001366199.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 686,
"cds_start": 253,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "ENST00000514170.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "ENST00000514170.7",
"protein_id": "ENSP00000426862.3",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 686,
"cds_start": 253,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": "NM_001379270.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "ENST00000402813.9",
"protein_id": "ENSP00000384264.5",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 686,
"cds_start": 253,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "NM_000087.5",
"protein_id": "NP_000078.3",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 686,
"cds_start": 253,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "NM_001142564.2",
"protein_id": "NP_001136036.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 686,
"cds_start": 253,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "ENST00000420489.7",
"protein_id": "ENSP00000389881.3",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 686,
"cds_start": 253,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "ENST00000504722.6",
"protein_id": "ENSP00000423721.2",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 123,
"cds_start": 253,
"cds_end": null,
"cds_length": 373,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "ENST00000514520.6",
"protein_id": "ENSP00000421110.2",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 94,
"cds_start": 253,
"cds_end": null,
"cds_length": 287,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs",
"transcript": "ENST00000513178.2",
"protein_id": "ENSP00000423327.2",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 94,
"cds_start": 253,
"cds_end": null,
"cds_length": 285,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.265delC",
"hgvs_p": "p.Leu89fs",
"transcript": "XM_005248049.5",
"protein_id": "XP_005248106.3",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 690,
"cds_start": 265,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "c.265delC",
"hgvs_p": "p.Leu89fs",
"transcript": "XM_011513623.3",
"protein_id": "XP_011511925.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 690,
"cds_start": 265,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 566,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNGA1",
"gene_hgnc_id": 2148,
"hgvs_c": "n.253delC",
"hgvs_p": null,
"transcript": "ENST00000506118.1",
"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": 701,
"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.479-9157delG",
"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+35163delG",
"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.479-9157delG",
"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": "rs749012133",
"frequency_reference_population": 0.000029739334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000294157,
"gnomad_genomes_af": 0.0000328476,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.636,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000514170.7",
"gene_symbol": "CNGA1",
"hgnc_id": 2148,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.253delC",
"hgvs_p": "p.Leu85fs"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000513724.1",
"gene_symbol": "NIPAL1",
"hgnc_id": 27194,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.563+35163delG",
"hgvs_p": null
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_125879.1",
"gene_symbol": "LOC101927157",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.479-9157delG",
"hgvs_p": null
}
],
"clinvar_disease": "Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 49,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 LP:1",
"phenotype_combined": "Retinitis pigmentosa 49|Retinal dystrophy|not provided|Retinitis pigmentosa;Retinitis pigmentosa 49",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}