← Back to variant description
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: 17-6433927-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6433927&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6433927,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000381129.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "NM_014336.5",
"protein_id": "NP_055151.3",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 384,
"cds_start": 268,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "ENST00000381129.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000381129.8",
"protein_id": "ENSP00000370521.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 384,
"cds_start": 268,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "NM_014336.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Asp78Asn",
"transcript": "ENST00000574506.5",
"protein_id": "ENSP00000458456.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 372,
"cds_start": 232,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Asp68Asn",
"transcript": "ENST00000570466.5",
"protein_id": "ENSP00000461287.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 362,
"cds_start": 202,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000576776.5",
"protein_id": "ENSP00000460827.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 360,
"cds_start": 268,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000250087.9",
"protein_id": "ENSP00000250087.5",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 321,
"cds_start": 268,
"cds_end": null,
"cds_length": 966,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000575265.5",
"protein_id": "ENSP00000459673.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 270,
"cds_start": 268,
"cds_end": null,
"cds_length": 813,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000571740.5",
"protein_id": "ENSP00000460134.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 262,
"cds_start": 268,
"cds_end": null,
"cds_length": 789,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1202,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "n.*140G>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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "n.*140G>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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.96+1082G>A",
"hgvs_p": null,
"transcript": "ENST00000576307.5",
"protein_id": "ENSP00000459522.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Asp78Asn",
"transcript": "NM_001285399.3",
"protein_id": "NP_001272328.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 372,
"cds_start": 232,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Asp68Asn",
"transcript": "NM_001285400.3",
"protein_id": "NP_001272329.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 362,
"cds_start": 202,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "NM_001285401.3",
"protein_id": "NP_001272330.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 360,
"cds_start": 268,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.151G>A",
"hgvs_p": "p.Asp51Asn",
"transcript": "NM_001285402.2",
"protein_id": "NP_001272331.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 345,
"cds_start": 151,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "NM_001033054.3",
"protein_id": "NP_001028226.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 321,
"cds_start": 268,
"cds_end": null,
"cds_length": 966,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "NM_001285403.4",
"protein_id": "NP_001272332.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 262,
"cds_start": 268,
"cds_end": null,
"cds_length": 789,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn",
"transcript": "ENST00000574913.1",
"protein_id": "ENSP00000460672.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 215,
"cds_start": 268,
"cds_end": null,
"cds_length": 650,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Asp81Asn",
"transcript": "ENST00000570584.5",
"protein_id": "ENSP00000467360.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 134,
"cds_start": 241,
"cds_end": null,
"cds_length": 407,
"cdna_start": 243,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"hgvs_c": "c.96+1082G>A",
"hgvs_p": null,
"transcript": "NM_001033055.3",
"protein_id": "NP_001028227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AIPL1",
"gene_hgnc_id": 359,
"dbsnp": "rs12449580",
"frequency_reference_population": 0.000048015107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000507903,
"gnomad_genomes_af": 0.000020451,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7929537296295166,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.605,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.714,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000381129.8",
"gene_symbol": "AIPL1",
"hgnc_id": 359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Asp90Asn"
}
],
"clinvar_disease": "Leber congenital amaurosis 4",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Leber congenital amaurosis 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}