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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: 14-23321471-T-TGGCGGCGGCGGCGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23321471&ref=T&alt=TGGCGGCGGCGGCGGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23321471,
"ref": "T",
"alt": "TGGCGGCGGCGGCGGC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000216727.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AAAAAA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPN1",
"gene_hgnc_id": 8565,
"hgvs_c": "c.9_23dupGGCGGCGGCGGCGGC",
"hgvs_p": "p.Ala4_Ala8dup",
"transcript": "NM_004643.4",
"protein_id": "NP_004634.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 306,
"cds_start": 24,
"cds_end": null,
"cds_length": 921,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": "ENST00000216727.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AAAAAA",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPN1",
"gene_hgnc_id": 8565,
"hgvs_c": "c.9_23dupGGCGGCGGCGGCGGC",
"hgvs_p": "p.Ala4_Ala8dup",
"transcript": "ENST00000216727.9",
"protein_id": "ENSP00000216727.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 306,
"cds_start": 24,
"cds_end": null,
"cds_length": 921,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": "NM_004643.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AAAAAA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPN1",
"gene_hgnc_id": 8565,
"hgvs_c": "c.9_23dupGGCGGCGGCGGCGGC",
"hgvs_p": "p.Ala4_Ala8dup",
"transcript": "ENST00000397276.6",
"protein_id": "ENSP00000380446.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 296,
"cds_start": 24,
"cds_end": null,
"cds_length": 891,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.433-703_433-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000553781.5",
"protein_id": "ENSP00000451320.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AAAAAA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPN1",
"gene_hgnc_id": 8565,
"hgvs_c": "c.9_23dupGGCGGCGGCGGCGGC",
"hgvs_p": "p.Ala4_Ala8dup",
"transcript": "NM_001360551.3",
"protein_id": "NP_001347480.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 296,
"cds_start": 24,
"cds_end": null,
"cds_length": 891,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.550-703_550-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387340.1",
"protein_id": "NP_001374269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.529-703_529-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387341.1",
"protein_id": "NP_001374270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": -4,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.529-703_529-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387342.1",
"protein_id": "NP_001374271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": -4,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.529-703_529-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000678502.1",
"protein_id": "ENSP00000503309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": -4,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.529-703_529-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387343.1",
"protein_id": "NP_001374272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.529-703_529-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387344.1",
"protein_id": "NP_001374273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.433-703_433-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001199864.3",
"protein_id": "NP_001186793.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.433-703_433-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000557008.2",
"protein_id": "ENSP00000452479.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.433-703_433-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387345.1",
"protein_id": "NP_001374274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCL2L2-PABPN1",
"gene_hgnc_id": 42959,
"hgvs_c": "c.433-703_433-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001387346.1",
"protein_id": "NP_001374275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPN1",
"gene_hgnc_id": 8565,
"hgvs_c": "c.-743_-742insGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000556821.5",
"protein_id": "ENSP00000451970.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PABPN1",
"gene_hgnc_id": 8565,
"dbsnp": "rs193922941",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 9.95049e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 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": 2.81,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong,BP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 1,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000216727.9",
"gene_symbol": "PABPN1",
"hgnc_id": 8565,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.9_23dupGGCGGCGGCGGCGGC",
"hgvs_p": "p.Ala4_Ala8dup"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000553781.5",
"gene_symbol": "BCL2L2-PABPN1",
"hgnc_id": 42959,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.433-703_433-689dupGGCGGCGGCGGCGGC",
"hgvs_p": null
}
],
"clinvar_disease": "Oculopharyngeal muscular dystrophy,Oculopharyngeal muscular dystrophy 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Oculopharyngeal muscular dystrophy|not provided|Oculopharyngeal muscular dystrophy 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}