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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: 17-6425550-GGGTGGCTCTGCA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6425550&ref=GGGTGGCTCTGCA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6425550,
"ref": "GGGTGGCTCTGCA",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000381129.8",
"consequences": [
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1053_1064delTGCAGAGCCACC",
"hgvs_p": "p.Ala352_Pro355del",
"transcript": "NM_014336.5",
"protein_id": "NP_055151.3",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 384,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "ENST00000381129.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1053_1064delTGCAGAGCCACC",
"hgvs_p": "p.Ala352_Pro355del",
"transcript": "ENST00000381129.8",
"protein_id": "ENSP00000370521.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 384,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": "NM_014336.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1017_1028delTGCAGAGCCACC",
"hgvs_p": "p.Ala340_Pro343del",
"transcript": "ENST00000574506.5",
"protein_id": "ENSP00000458456.1",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.987_998delTGCAGAGCCACC",
"hgvs_p": "p.Ala330_Pro333del",
"transcript": "ENST00000570466.5",
"protein_id": "ENSP00000461287.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 362,
"cds_start": 987,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.981_992delTGCAGAGCCACC",
"hgvs_p": "p.Ala328_Pro331del",
"transcript": "ENST00000576776.5",
"protein_id": "ENSP00000460827.1",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 360,
"cds_start": 981,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.873_884delTGCAGAGCCACC",
"hgvs_p": "p.Ala292_Pro295del",
"transcript": "ENST00000576307.5",
"protein_id": "ENSP00000459522.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 324,
"cds_start": 873,
"cds_end": null,
"cds_length": 975,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.864_875delTGCAGAGCCACC",
"hgvs_p": "p.Ala289_Pro292del",
"transcript": "ENST00000250087.9",
"protein_id": "ENSP00000250087.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 321,
"cds_start": 864,
"cds_end": null,
"cds_length": 966,
"cdna_start": 970,
"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.*925_*936delTGCAGAGCCACC",
"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.*1024_*1035delTGCAGAGCCACC",
"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.*925_*936delTGCAGAGCCACC",
"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": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1017_1028delTGCAGAGCCACC",
"hgvs_p": "p.Ala340_Pro343del",
"transcript": "NM_001285399.3",
"protein_id": "NP_001272328.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.987_998delTGCAGAGCCACC",
"hgvs_p": "p.Ala330_Pro333del",
"transcript": "NM_001285400.3",
"protein_id": "NP_001272329.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 362,
"cds_start": 987,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.981_992delTGCAGAGCCACC",
"hgvs_p": "p.Ala328_Pro331del",
"transcript": "NM_001285401.3",
"protein_id": "NP_001272330.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 360,
"cds_start": 981,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.936_947delTGCAGAGCCACC",
"hgvs_p": "p.Ala313_Pro316del",
"transcript": "NM_001285402.2",
"protein_id": "NP_001272331.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 345,
"cds_start": 936,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.873_884delTGCAGAGCCACC",
"hgvs_p": "p.Ala292_Pro295del",
"transcript": "NM_001033055.3",
"protein_id": "NP_001028227.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 324,
"cds_start": 873,
"cds_end": null,
"cds_length": 975,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAEPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.864_875delTGCAGAGCCACC",
"hgvs_p": "p.Ala289_Pro292del",
"transcript": "NM_001033054.3",
"protein_id": "NP_001028226.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 321,
"cds_start": 864,
"cds_end": null,
"cds_length": 966,
"cdna_start": 892,
"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.*1024_*1035delTGCAGAGCCACC",
"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+8357_249+8368delTGCAGAGCCACC",
"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": "rs281865195",
"frequency_reference_population": 0.0007079817,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1142,
"gnomad_exomes_af": 0.000716658,
"gnomad_genomes_af": 0.000624638,
"gnomad_exomes_ac": 1047,
"gnomad_genomes_ac": 95,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.383,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BP6,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000381129.8",
"gene_symbol": "AIPL1",
"hgnc_id": 359,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1053_1064delTGCAGAGCCACC",
"hgvs_p": "p.Ala352_Pro355del"
}
],
"clinvar_disease": " AIPL1-RELATED, AIPL1-related,AIPL1-related disorder,CONE-ROD DYSTROPHY,Juvenile retinitis pigmentosa,Leber congenital amaurosis 4,Retinal dystrophy,Retinitis pigmentosa,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1 B:1 O:1",
"phenotype_combined": "Juvenile retinitis pigmentosa, AIPL1-related|CONE-ROD DYSTROPHY, AIPL1-RELATED|not provided|Leber congenital amaurosis 4|Retinal dystrophy|AIPL1-related disorder|Leber congenital amaurosis 4;Retinitis pigmentosa|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}