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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: 12-110127467-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110127467&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110127467,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000242591.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "NM_014055.4",
"protein_id": "NP_054774.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 676,
"cds_start": 87,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": "ENST00000242591.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "ENST00000242591.10",
"protein_id": "ENSP00000242591.5",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 676,
"cds_start": 87,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": "NM_014055.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "ENST00000552912.5",
"protein_id": "ENSP00000449718.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 676,
"cds_start": 87,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "ENST00000361948.8",
"protein_id": "ENSP00000355372.4",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 431,
"cds_start": 87,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "NM_001143779.2",
"protein_id": "NP_001137251.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 676,
"cds_start": 87,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "NM_001347946.2",
"protein_id": "NP_001334875.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 431,
"cds_start": 87,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "NM_031473.4",
"protein_id": "NP_113661.2",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 431,
"cds_start": 87,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "ENST00000546374.5",
"protein_id": "ENSP00000446950.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 365,
"cds_start": 87,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe",
"transcript": "XM_017019217.2",
"protein_id": "XP_016874706.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 676,
"cds_start": 87,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.613G>C",
"hgvs_p": null,
"transcript": "NR_144949.2",
"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": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.195G>C",
"hgvs_p": null,
"transcript": "NR_144950.2",
"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": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.195G>C",
"hgvs_p": null,
"transcript": "NR_144951.2",
"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": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.613G>C",
"hgvs_p": null,
"transcript": "NR_144952.2",
"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": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.613G>C",
"hgvs_p": null,
"transcript": "XR_001748670.3",
"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": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.613G>C",
"hgvs_p": null,
"transcript": "XR_007063070.1",
"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": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.195G>C",
"hgvs_p": null,
"transcript": "XR_944523.4",
"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": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.-680G>C",
"hgvs_p": null,
"transcript": "NM_001347947.2",
"protein_id": "NP_001334876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "c.-680G>C",
"hgvs_p": null,
"transcript": "NM_001347948.2",
"protein_id": "NP_001334877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"hgvs_c": "n.-7G>C",
"hgvs_p": null,
"transcript": "ENST00000550156.5",
"protein_id": "ENSP00000446895.1",
"transcript_support_level": 2,
"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": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFT81",
"gene_hgnc_id": 14313,
"dbsnp": "rs751222088",
"frequency_reference_population": 0.00013725241,
"hom_count_reference_population": 0,
"allele_count_reference_population": 221,
"gnomad_exomes_af": 0.00014814,
"gnomad_genomes_af": 0.0000328753,
"gnomad_exomes_ac": 216,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5835977792739868,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.615,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3199,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.163,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000242591.10",
"gene_symbol": "IFT81",
"hgnc_id": 14313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.87G>C",
"hgvs_p": "p.Leu29Phe"
}
],
"clinvar_disease": "SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY,Short-rib thoracic dysplasia 19 with or without polydactyly,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Short-rib thoracic dysplasia 19 with or without polydactyly|SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}