← Back to variant description
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: 11-6217553-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6217553&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6217553,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000449352.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "NM_001098794.2",
"protein_id": "NP_001092264.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 972,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": "ENST00000449352.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "ENST00000449352.7",
"protein_id": "ENSP00000416918.3",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 972,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": "NM_001098794.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "ENST00000265978.8",
"protein_id": "ENSP00000265978.4",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 986,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "NM_032127.4",
"protein_id": "NP_115503.2",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 986,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "ENST00000524416.1",
"protein_id": "ENSP00000431773.1",
"transcript_support_level": 2,
"aa_start": 678,
"aa_end": null,
"aa_length": 838,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "XM_006718343.4",
"protein_id": "XP_006718406.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 986,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "XM_011520397.3",
"protein_id": "XP_011518699.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 986,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 6805,
"cdna_end": null,
"cdna_length": 7852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "XM_047427685.1",
"protein_id": "XP_047283641.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 986,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 7805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "XM_047427686.1",
"protein_id": "XP_047283642.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 972,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 6763,
"cdna_end": null,
"cdna_length": 7810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "XM_047427687.1",
"protein_id": "XP_047283643.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 972,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "XM_047427688.1",
"protein_id": "XP_047283644.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 972,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 6716,
"cdna_end": null,
"cdna_length": 7763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "XM_011520398.4",
"protein_id": "XP_011518700.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 868,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro",
"transcript": "XM_024448710.2",
"protein_id": "XP_024304478.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 854,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"hgvs_c": "c.2075T>C",
"hgvs_p": "p.Leu692Pro",
"transcript": "XM_047427689.1",
"protein_id": "XP_047283645.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 824,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FHIP1B",
"gene_hgnc_id": 25378,
"dbsnp": "rs149699306",
"frequency_reference_population": 0.000018636156,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.00000960439,
"gnomad_genomes_af": 0.000105188,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49777090549468994,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.305,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9078,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.707,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000449352.7",
"gene_symbol": "FHIP1B",
"hgnc_id": 25378,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Leu678Pro"
}
],
"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
}