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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: 9-34491518-TCC-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34491518&ref=TCC&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34491518,
"ref": "TCC",
"alt": "CCT",
"effect": "missense_variant",
"transcript": "NM_001281428.2",
"consequences": [
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.645_647delTCCinsCCT",
"hgvs_p": "p.Pro216Leu",
"transcript": "NM_012144.4",
"protein_id": "NP_036276.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 699,
"cds_start": 645,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": "ENST00000242317.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012144.4"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.645_647delTCCinsCCT",
"hgvs_p": "p.Pro216Leu",
"transcript": "ENST00000242317.9",
"protein_id": "ENSP00000242317.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 699,
"cds_start": 645,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": "NM_012144.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242317.9"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.738_740delTCCinsCCT",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000878474.1",
"protein_id": "ENSP00000548533.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 730,
"cds_start": 738,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878474.1"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.657_659delTCCinsCCT",
"hgvs_p": "p.Pro220Leu",
"transcript": "NM_001281428.2",
"protein_id": "NP_001268357.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 703,
"cds_start": 657,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281428.2"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.657_659delTCCinsCCT",
"hgvs_p": "p.Pro220Leu",
"transcript": "ENST00000614641.4",
"protein_id": "ENSP00000480538.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 703,
"cds_start": 657,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614641.4"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.645_647delTCCinsCCT",
"hgvs_p": "p.Pro216Leu",
"transcript": "ENST00000878476.1",
"protein_id": "ENSP00000548535.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 613,
"cds_start": 645,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878476.1"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.645_647delTCCinsCCT",
"hgvs_p": "p.Pro216Leu",
"transcript": "ENST00000878475.1",
"protein_id": "ENSP00000548534.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 479,
"cds_start": 645,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878475.1"
},
{
"aa_ref": "PP",
"aa_alt": "PL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "c.612_614delTCCinsCCT",
"hgvs_p": "p.Pro205Leu",
"transcript": "ENST00000437363.5",
"protein_id": "ENSP00000395396.1",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 288,
"cds_start": 612,
"cds_end": null,
"cds_length": 868,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "n.761_763delTCCinsCCT",
"hgvs_p": null,
"transcript": "ENST00000488369.1",
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"hgvs_c": "n.176_178delTCCinsCCT",
"hgvs_p": null,
"transcript": "ENST00000488790.1",
"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": 240,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488790.1"
}
],
"gene_symbol": "DNAI1",
"gene_hgnc_id": 2954,
"dbsnp": "rs876657783",
"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": 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": 4.876,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001281428.2",
"gene_symbol": "DNAI1",
"hgnc_id": 2954,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.657_659delTCCinsCCT",
"hgvs_p": "p.Pro220Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}