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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: 6-106572092-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=106572092&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 106572092,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_032730.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.1095T>A",
"hgvs_p": "p.Val365Val",
"transcript": "NM_032730.5",
"protein_id": "NP_116119.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 396,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369063.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032730.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.1095T>A",
"hgvs_p": "p.Val365Val",
"transcript": "ENST00000369063.8",
"protein_id": "ENSP00000358059.3",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 396,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032730.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369063.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Val371Val",
"transcript": "ENST00000865782.1",
"protein_id": "ENSP00000535841.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 402,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865782.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.1077T>A",
"hgvs_p": "p.Val359Val",
"transcript": "ENST00000947236.1",
"protein_id": "ENSP00000617295.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 390,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947236.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.1074T>A",
"hgvs_p": "p.Val358Val",
"transcript": "ENST00000913981.1",
"protein_id": "ENSP00000584040.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 389,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913981.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.1026T>A",
"hgvs_p": "p.Val342Val",
"transcript": "ENST00000865784.1",
"protein_id": "ENSP00000535843.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 373,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865784.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.921T>A",
"hgvs_p": "p.Val307Val",
"transcript": "ENST00000865781.1",
"protein_id": "ENSP00000535840.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 338,
"cds_start": 921,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865781.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.795T>A",
"hgvs_p": "p.Val265Val",
"transcript": "NM_001318746.1",
"protein_id": "NP_001305675.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 296,
"cds_start": 795,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318746.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.774T>A",
"hgvs_p": "p.Val258Val",
"transcript": "ENST00000865783.1",
"protein_id": "ENSP00000535842.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 289,
"cds_start": 774,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865783.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.855T>A",
"hgvs_p": "p.Val285Val",
"transcript": "XM_011536192.3",
"protein_id": "XP_011534494.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 316,
"cds_start": 855,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536192.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.*44T>A",
"hgvs_p": null,
"transcript": "ENST00000539449.2",
"protein_id": "ENSP00000444261.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539449.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "c.*44T>A",
"hgvs_p": null,
"transcript": "XM_017011376.3",
"protein_id": "XP_016866865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011376.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "n.93T>A",
"hgvs_p": null,
"transcript": "ENST00000493619.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493619.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"hgvs_c": "n.316T>A",
"hgvs_p": null,
"transcript": "ENST00000498091.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498091.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG1",
"gene_hgnc_id": 356,
"hgvs_c": "c.*3526A>T",
"hgvs_p": null,
"transcript": "NM_001371242.2",
"protein_id": "NP_001358171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2131,
"cds_start": null,
"cds_end": null,
"cds_length": 6396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000633556.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371242.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG1",
"gene_hgnc_id": 356,
"hgvs_c": "c.*3526A>T",
"hgvs_p": null,
"transcript": "ENST00000633556.3",
"protein_id": "ENSP00000488010.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2131,
"cds_start": null,
"cds_end": null,
"cds_length": 6396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371242.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633556.3"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG1",
"gene_hgnc_id": 356,
"hgvs_c": "c.*3526A>T",
"hgvs_p": null,
"transcript": "NM_001624.4",
"protein_id": "NP_001615.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1723,
"cds_start": null,
"cds_end": null,
"cds_length": 5172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001624.4"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYBG1",
"gene_hgnc_id": 356,
"hgvs_c": "c.*3526A>T",
"hgvs_p": null,
"transcript": "XM_047418270.1",
"protein_id": "XP_047274226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2157,
"cds_start": null,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418270.1"
}
],
"gene_symbol": "RTN4IP1",
"gene_hgnc_id": 18647,
"dbsnp": "rs780789711",
"frequency_reference_population": 0.000070029484,
"hom_count_reference_population": 1,
"allele_count_reference_population": 113,
"gnomad_exomes_af": 0.0000759552,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 111,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.223,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_032730.5",
"gene_symbol": "RTN4IP1",
"hgnc_id": 18647,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1095T>A",
"hgvs_p": "p.Val365Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001371242.2",
"gene_symbol": "CRYBG1",
"hgnc_id": 356,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*3526A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}