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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: 17-801020-TCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=801020&ref=TCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 801020,
"ref": "TCTC",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "NM_022463.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.1234_1236delGAG",
"hgvs_p": "p.Glu412del",
"transcript": "NM_022463.5",
"protein_id": "NP_071908.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 435,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336868.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022463.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.1234_1236delGAG",
"hgvs_p": "p.Glu412del",
"transcript": "ENST00000336868.8",
"protein_id": "ENSP00000337443.3",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 435,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022463.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336868.8"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.910_912delGAG",
"hgvs_p": "p.Glu304del",
"transcript": "ENST00000575801.5",
"protein_id": "ENSP00000461038.1",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 327,
"cds_start": 910,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575801.5"
},
{
"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": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "n.412_414delGAG",
"hgvs_p": null,
"transcript": "ENST00000571281.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000571281.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.910_912delGAG",
"hgvs_p": "p.Glu304del",
"transcript": "NM_001205319.1",
"protein_id": "NP_001192248.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 327,
"cds_start": 910,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205319.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.616_618delGAG",
"hgvs_p": "p.Glu206del",
"transcript": "ENST00000571684.5",
"protein_id": "ENSP00000461562.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 229,
"cds_start": 616,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571684.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.487_489delGAG",
"hgvs_p": "p.Glu163del",
"transcript": "ENST00000537628.6",
"protein_id": "ENSP00000446446.2",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 186,
"cds_start": 487,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537628.6"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.1054_1056delGAG",
"hgvs_p": "p.Glu352del",
"transcript": "XM_005256756.5",
"protein_id": "XP_005256813.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 375,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256756.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.895_897delGAG",
"hgvs_p": "p.Glu299del",
"transcript": "XM_005256758.4",
"protein_id": "XP_005256815.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 322,
"cds_start": 895,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256758.4"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "c.730_732delGAG",
"hgvs_p": "p.Glu244del",
"transcript": "XM_047436532.1",
"protein_id": "XP_047292488.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 267,
"cds_start": 730,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"hgvs_c": "n.273_275delGAG",
"hgvs_p": null,
"transcript": "ENST00000574018.1",
"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": "ENST00000574018.1"
}
],
"gene_symbol": "NXN",
"gene_hgnc_id": 18008,
"dbsnp": "rs1555607285",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.994,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022463.5",
"gene_symbol": "NXN",
"hgnc_id": 18008,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1234_1236delGAG",
"hgvs_p": "p.Glu412del"
}
],
"clinvar_disease": " autosomal recessive 2,Robinow syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Robinow syndrome, autosomal recessive 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}