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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: 7-129455333-ATA-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=129455333&ref=ATA&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STRIP2",
"hgnc_id": 22209,
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"inheritance_mode": "Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_020704.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 834,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 837,
"cds_end": null,
"cds_length": 2505,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020704.3",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000249344.7",
"protein_coding": true,
"protein_id": "NP_065755.1",
"strand": true,
"transcript": "NM_020704.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 834,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 837,
"cds_end": null,
"cds_length": 2505,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000249344.7",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020704.3",
"protein_coding": true,
"protein_id": "ENSP00000249344.2",
"strand": true,
"transcript": "ENST00000249344.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 758,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2277,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435494.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392393.2",
"strand": true,
"transcript": "ENST00000435494.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 810,
"aa_ref": "I",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5081,
"cdna_start": 805,
"cds_end": null,
"cds_length": 2433,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947594.1",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.724_726delATAinsGTC",
"hgvs_p": "p.Ile242Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617653.1",
"strand": true,
"transcript": "ENST00000947594.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 809,
"aa_ref": "I",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 751,
"cds_end": null,
"cds_length": 2430,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889796.1",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.721_723delATAinsGTC",
"hgvs_p": "p.Ile241Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559855.1",
"strand": true,
"transcript": "ENST00000889796.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 758,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 837,
"cds_end": null,
"cds_length": 2277,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001134336.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001127808.1",
"strand": true,
"transcript": "NM_001134336.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 698,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 837,
"cds_end": null,
"cds_length": 2097,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716069.4",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716132.1",
"strand": true,
"transcript": "XM_006716069.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 674,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 837,
"cds_end": null,
"cds_length": 2025,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012470.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867959.1",
"strand": true,
"transcript": "XM_017012470.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 673,
"aa_ref": "I",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 484,
"cds_end": null,
"cds_length": 2022,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516432.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.313_315delATAinsGTC",
"hgvs_p": "p.Ile105Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514734.1",
"strand": true,
"transcript": "XM_011516432.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 596,
"aa_ref": "I",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 159,
"cds_end": null,
"cds_length": 1791,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012471.1",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.82_84delATAinsGTC",
"hgvs_p": "p.Ile28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867960.1",
"strand": true,
"transcript": "XM_017012471.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 567,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1704,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420656.1",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276612.1",
"strand": true,
"transcript": "XM_047420656.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 548,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1647,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516435.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "c.796_798delATAinsGTC",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514737.1",
"strand": true,
"transcript": "XM_011516435.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_001744840.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "n.837_839delATAinsGTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001744840.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_001744841.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "n.837_839delATAinsGTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001744841.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_927493.2",
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"hgvs_c": "n.837_839delATAinsGTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_927493.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 22209,
"gene_symbol": "STRIP2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.915,
"pos": 129455333,
"ref": "ATA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_020704.3"
}
]
}