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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: 1-976215-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=976215&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 976215,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001291366.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "NM_001394713.1",
"protein_id": "NP_001381642.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000433179.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394713.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000433179.4",
"protein_id": "ENSP00000414022.3",
"transcript_support_level": 5,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394713.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433179.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "n.198T>A",
"hgvs_p": null,
"transcript": "ENST00000479361.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000479361.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "NM_001291366.2",
"protein_id": "NP_001278295.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291366.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "NM_001369897.1",
"protein_id": "NP_001356826.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369897.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000694917.1",
"protein_id": "ENSP00000511592.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694917.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000880868.1",
"protein_id": "ENSP00000550927.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880868.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000880869.1",
"protein_id": "ENSP00000550928.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880869.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000880870.1",
"protein_id": "ENSP00000550929.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880870.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000959772.1",
"protein_id": "ENSP00000629831.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959772.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu",
"transcript": "ENST00000959773.1",
"protein_id": "ENSP00000629832.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 790,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959773.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2264T>A",
"hgvs_p": "p.Val755Glu",
"transcript": "NM_001369898.1",
"protein_id": "NP_001356827.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 768,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369898.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2264T>A",
"hgvs_p": "p.Val755Glu",
"transcript": "ENST00000880867.1",
"protein_id": "ENSP00000550926.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 768,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880867.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2204T>A",
"hgvs_p": "p.Val735Glu",
"transcript": "ENST00000959770.1",
"protein_id": "ENSP00000629829.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 748,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959770.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.2204T>A",
"hgvs_p": "p.Val735Glu",
"transcript": "ENST00000959771.1",
"protein_id": "ENSP00000629830.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 748,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959771.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.1988T>A",
"hgvs_p": "p.Val663Glu",
"transcript": "NM_001291367.2",
"protein_id": "NP_001278296.2",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 676,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291367.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"hgvs_c": "c.1988T>A",
"hgvs_p": "p.Val663Glu",
"transcript": "ENST00000341290.6",
"protein_id": "ENSP00000343864.2",
"transcript_support_level": 2,
"aa_start": 663,
"aa_end": null,
"aa_length": 676,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341290.6"
}
],
"gene_symbol": "PERM1",
"gene_hgnc_id": 28208,
"dbsnp": "rs7417106",
"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": 0.24913087487220764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.2807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.054,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001291366.2",
"gene_symbol": "PERM1",
"hgnc_id": 28208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2330T>A",
"hgvs_p": "p.Val777Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}