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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: X-53320923-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53320923&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53320923,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000642864.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001111125.3",
"protein_id": "NP_001104595.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1488,
"cds_start": 201,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": "ENST00000642864.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000642864.1",
"protein_id": "ENSP00000495726.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1488,
"cds_start": 201,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 6037,
"mane_select": "NM_001111125.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.360G>C",
"hgvs_p": "p.Leu120Leu",
"transcript": "ENST00000706952.1",
"protein_id": "ENSP00000516672.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 1541,
"cds_start": 360,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000674510.1",
"protein_id": "ENSP00000502054.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1488,
"cds_start": 201,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000675719.1",
"protein_id": "ENSP00000501927.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1478,
"cds_start": 201,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001441092.1",
"protein_id": "NP_001428021.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1168,
"cds_start": 201,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 7654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001410736.1",
"protein_id": "NP_001397665.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1154,
"cds_start": 201,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000640694.1",
"protein_id": "ENSP00000492403.1",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 1154,
"cds_start": 201,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_006724579.4",
"protein_id": "XP_006724642.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1520,
"cds_start": 201,
"cds_end": null,
"cds_length": 4563,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_006724581.5",
"protein_id": "XP_006724644.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1244,
"cds_start": 201,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_011530774.4",
"protein_id": "XP_011529076.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1222,
"cds_start": 201,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_006724582.5",
"protein_id": "XP_006724645.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1212,
"cds_start": 201,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_006724583.5",
"protein_id": "XP_006724646.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1200,
"cds_start": 201,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 7750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_047441928.1",
"protein_id": "XP_047297884.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1188,
"cds_start": 201,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_006724584.4",
"protein_id": "XP_006724647.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1186,
"cds_start": 201,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_011530776.3",
"protein_id": "XP_011529078.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1130,
"cds_start": 201,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu",
"transcript": "XM_011530777.3",
"protein_id": "XP_011529079.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 1126,
"cds_start": 201,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 4271,
"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": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"hgvs_c": "n.428G>C",
"hgvs_p": null,
"transcript": "XR_938365.3",
"protein_id": null,
"transcript_support_level": null,
"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": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IQSEC2",
"gene_hgnc_id": 29059,
"dbsnp": "rs587780359",
"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": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.194,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642864.1",
"gene_symbol": "IQSEC2",
"hgnc_id": 29059,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Leu67Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}