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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: 17-6425781-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6425781&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6425781,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000381129.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Trp278*",
"transcript": "NM_014336.5",
"protein_id": "NP_055151.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 384,
"cds_start": 834,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "ENST00000381129.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Trp278*",
"transcript": "ENST00000381129.8",
"protein_id": "ENSP00000370521.3",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 384,
"cds_start": 834,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "NM_014336.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Trp266*",
"transcript": "ENST00000574506.5",
"protein_id": "ENSP00000458456.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 372,
"cds_start": 798,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Trp256*",
"transcript": "ENST00000570466.5",
"protein_id": "ENSP00000461287.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 362,
"cds_start": 768,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Trp254*",
"transcript": "ENST00000576776.5",
"protein_id": "ENSP00000460827.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 360,
"cds_start": 762,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Trp218*",
"transcript": "ENST00000576307.5",
"protein_id": "ENSP00000459522.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 324,
"cds_start": 654,
"cds_end": null,
"cds_length": 975,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Trp215*",
"transcript": "ENST00000250087.9",
"protein_id": "ENSP00000250087.5",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 321,
"cds_start": 645,
"cds_end": null,
"cds_length": 966,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2783,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "n.*706G>A",
"hgvs_p": null,
"transcript": "ENST00000381128.2",
"protein_id": "ENSP00000370520.2",
"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": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.*805G>A",
"hgvs_p": null,
"transcript": "ENST00000575265.5",
"protein_id": "ENSP00000459673.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "n.*706G>A",
"hgvs_p": null,
"transcript": "ENST00000381128.2",
"protein_id": "ENSP00000370520.2",
"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": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Trp266*",
"transcript": "NM_001285399.3",
"protein_id": "NP_001272328.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 372,
"cds_start": 798,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Trp256*",
"transcript": "NM_001285400.3",
"protein_id": "NP_001272329.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 362,
"cds_start": 768,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.762G>A",
"hgvs_p": "p.Trp254*",
"transcript": "NM_001285401.3",
"protein_id": "NP_001272330.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 360,
"cds_start": 762,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Trp239*",
"transcript": "NM_001285402.2",
"protein_id": "NP_001272331.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 345,
"cds_start": 717,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Trp218*",
"transcript": "NM_001033055.3",
"protein_id": "NP_001028227.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 324,
"cds_start": 654,
"cds_end": null,
"cds_length": 975,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Trp215*",
"transcript": "NM_001033054.3",
"protein_id": "NP_001028226.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 321,
"cds_start": 645,
"cds_end": null,
"cds_length": 966,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.*805G>A",
"hgvs_p": null,
"transcript": "NM_001285403.4",
"protein_id": "NP_001272332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2144,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.249+8138G>A",
"hgvs_p": null,
"transcript": "ENST00000570584.5",
"protein_id": "ENSP00000467360.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"dbsnp": "rs62637014",
"frequency_reference_population": 0.00035418128,
"hom_count_reference_population": 1,
"allele_count_reference_population": 569,
"gnomad_exomes_af": 0.000352769,
"gnomad_genomes_af": 0.000367666,
"gnomad_exomes_ac": 513,
"gnomad_genomes_ac": 56,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.468,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000381129.8",
"gene_symbol": "AIPL1",
"hgnc_id": 359,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Trp278*"
}
],
"clinvar_disease": "AIPL1-related disorder,AIPL1-related retinopathy,Leber congenital amaurosis,Leber congenital amaurosis 4,Retinal dystrophy,Retinitis pigmentosa,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:20 O:2",
"phenotype_combined": "Leber congenital amaurosis 4|not provided|AIPL1-related disorder|Leber congenital amaurosis|Retinal dystrophy|Leber congenital amaurosis 4;Retinitis pigmentosa|AIPL1-related retinopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}