← 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: 7-129440080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=129440080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 129440080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020704.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "NM_020704.3",
"protein_id": "NP_065755.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 834,
"cds_start": 188,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249344.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020704.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "ENST00000249344.7",
"protein_id": "ENSP00000249344.2",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 834,
"cds_start": 188,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020704.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249344.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "ENST00000435494.2",
"protein_id": "ENSP00000392393.2",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 758,
"cds_start": 188,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435494.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "ENST00000947594.1",
"protein_id": "ENSP00000617653.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 810,
"cds_start": 188,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947594.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "ENST00000889796.1",
"protein_id": "ENSP00000559855.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 809,
"cds_start": 188,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889796.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "NM_001134336.2",
"protein_id": "NP_001127808.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 758,
"cds_start": 188,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134336.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "XM_006716069.4",
"protein_id": "XP_006716132.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 698,
"cds_start": 188,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716069.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "XM_017012470.2",
"protein_id": "XP_016867959.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 674,
"cds_start": 188,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012470.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "XM_047420656.1",
"protein_id": "XP_047276612.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 567,
"cds_start": 188,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420656.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "XM_011516435.2",
"protein_id": "XP_011514737.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 548,
"cds_start": 188,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516435.2"
},
{
"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": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "n.229C>T",
"hgvs_p": null,
"transcript": "XR_001744840.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001744840.2"
},
{
"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": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "n.229C>T",
"hgvs_p": null,
"transcript": "XR_001744841.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001744841.2"
},
{
"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": "STRIP2",
"gene_hgnc_id": 22209,
"hgvs_c": "n.229C>T",
"hgvs_p": null,
"transcript": "XR_927493.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_927493.2"
}
],
"gene_symbol": "STRIP2",
"gene_hgnc_id": 22209,
"dbsnp": "rs1031407303",
"frequency_reference_population": 0.000005576533,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000027364,
"gnomad_genomes_af": 0.0000328658,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5414088368415833,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.1156,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.552,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": "NM_020704.3",
"gene_symbol": "STRIP2",
"hgnc_id": 22209,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val"
}
],
"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
}