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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: 1-154990455-ACTC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154990455&ref=ACTC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154990455,
"ref": "ACTC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_025207.5",
"consequences": [
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1484_1486delCCT",
"hgvs_p": "p.Ser495del",
"transcript": "NM_025207.5",
"protein_id": "NP_079483.3",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 587,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292180.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025207.5"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1484_1486delCCT",
"hgvs_p": "p.Ser495del",
"transcript": "ENST00000292180.8",
"protein_id": "ENSP00000292180.3",
"transcript_support_level": 1,
"aa_start": 495,
"aa_end": null,
"aa_length": 587,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025207.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292180.8"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1193_1195delCCT",
"hgvs_p": "p.Ser398del",
"transcript": "ENST00000315144.14",
"protein_id": "ENSP00000317296.10",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 490,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315144.14"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1193_1195delCCT",
"hgvs_p": "p.Ser398del",
"transcript": "ENST00000368432.5",
"protein_id": "ENSP00000357417.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 446,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.415+201_415+203delCCT",
"hgvs_p": null,
"transcript": "ENST00000295530.6",
"protein_id": "ENSP00000295530.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295530.6"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1193_1195delCCT",
"hgvs_p": "p.Ser398del",
"transcript": "NM_201398.3",
"protein_id": "NP_958800.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 490,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201398.3"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1193_1195delCCT",
"hgvs_p": "p.Ser398del",
"transcript": "NM_001184891.2",
"protein_id": "NP_001171820.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 446,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184891.2"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.107_109delCCT",
"hgvs_p": "p.Ser36del",
"transcript": "ENST00000368428.1",
"protein_id": "ENSP00000357413.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 128,
"cds_start": 107,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368428.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.1193_1195delCCT",
"hgvs_p": "p.Ser398del",
"transcript": "XM_047430940.1",
"protein_id": "XP_047286896.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 429,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430940.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.683_685delCCT",
"hgvs_p": "p.Ser228del",
"transcript": "XM_047430941.1",
"protein_id": "XP_047286897.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 320,
"cds_start": 683,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.*194_*196delCCT",
"hgvs_p": null,
"transcript": "ENST00000368433.5",
"protein_id": "ENSP00000357418.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.*82_*84delCCT",
"hgvs_p": null,
"transcript": "XM_047430945.1",
"protein_id": "XP_047286901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "c.373-2255_373-2253delCCT",
"hgvs_p": null,
"transcript": "ENST00000912982.1",
"protein_id": "ENSP00000583041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912982.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "n.165_167delCCT",
"hgvs_p": null,
"transcript": "ENST00000477609.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000477609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"hgvs_c": "n.364+201_364+203delCCT",
"hgvs_p": null,
"transcript": "ENST00000489992.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000489992.5"
}
],
"gene_symbol": "FLAD1",
"gene_hgnc_id": 24671,
"dbsnp": "rs876661309",
"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": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.425,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025207.5",
"gene_symbol": "FLAD1",
"hgnc_id": 24671,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1484_1486delCCT",
"hgvs_p": "p.Ser495del"
}
],
"clinvar_disease": "Multiple acyl-CoA dehydrogenase deficiency,Myopathy with abnormal lipid metabolism",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Myopathy with abnormal lipid metabolism|Multiple acyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}