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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: 17-6426684-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6426684&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6426684,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000381129.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "NM_014336.5",
"protein_id": "NP_055151.3",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 384,
"cds_start": 715,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "ENST00000381129.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "ENST00000381129.8",
"protein_id": "ENSP00000370521.3",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 384,
"cds_start": 715,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "NM_014336.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.679T>C",
"hgvs_p": "p.Cys227Arg",
"transcript": "ENST00000574506.5",
"protein_id": "ENSP00000458456.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Cys217Arg",
"transcript": "ENST00000570466.5",
"protein_id": "ENSP00000461287.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 362,
"cds_start": 649,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Cys179Arg",
"transcript": "ENST00000576307.5",
"protein_id": "ENSP00000459522.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 324,
"cds_start": 535,
"cds_end": null,
"cds_length": 975,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Cys176Arg",
"transcript": "ENST00000250087.9",
"protein_id": "ENSP00000250087.5",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 321,
"cds_start": 526,
"cds_end": null,
"cds_length": 966,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "ENST00000575265.5",
"protein_id": "ENSP00000459673.1",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 270,
"cds_start": 715,
"cds_end": null,
"cds_length": 813,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.691T>C",
"hgvs_p": "p.Cys231Arg",
"transcript": "ENST00000571740.5",
"protein_id": "ENSP00000460134.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 262,
"cds_start": 691,
"cds_end": null,
"cds_length": 789,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Cys215Arg",
"transcript": "ENST00000576776.5",
"protein_id": "ENSP00000460827.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 360,
"cds_start": 643,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1190,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "n.*587T>C",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "n.*587T>C",
"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": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.679T>C",
"hgvs_p": "p.Cys227Arg",
"transcript": "NM_001285399.3",
"protein_id": "NP_001272328.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.649T>C",
"hgvs_p": "p.Cys217Arg",
"transcript": "NM_001285400.3",
"protein_id": "NP_001272329.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 362,
"cds_start": 649,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.598T>C",
"hgvs_p": "p.Cys200Arg",
"transcript": "NM_001285402.2",
"protein_id": "NP_001272331.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 345,
"cds_start": 598,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Cys179Arg",
"transcript": "NM_001033055.3",
"protein_id": "NP_001028227.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 324,
"cds_start": 535,
"cds_end": null,
"cds_length": 975,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Cys176Arg",
"transcript": "NM_001033054.3",
"protein_id": "NP_001028226.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 321,
"cds_start": 526,
"cds_end": null,
"cds_length": 966,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.691T>C",
"hgvs_p": "p.Cys231Arg",
"transcript": "NM_001285403.4",
"protein_id": "NP_001272332.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 262,
"cds_start": 691,
"cds_end": null,
"cds_length": 789,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Cys215Arg",
"transcript": "NM_001285401.3",
"protein_id": "NP_001272330.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 360,
"cds_start": 643,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2822,
"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+7235T>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.*201T>C",
"hgvs_p": null,
"transcript": "ENST00000574913.1",
"protein_id": "ENSP00000460672.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"dbsnp": "rs62637012",
"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": 0.9889699816703796,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.789,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.822,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000381129.8",
"gene_symbol": "AIPL1",
"hgnc_id": 359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg"
}
],
"clinvar_disease": "Leber congenital amaurosis,Leber congenital amaurosis 4,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1 O:2",
"phenotype_combined": "Leber congenital amaurosis 4|not provided|Leber congenital amaurosis",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}