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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: 10-17229708-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=17229708&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 17229708,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003380.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "NM_003380.5",
"protein_id": "NP_003371.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 466,
"cds_start": 286,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544301.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003380.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000544301.7",
"protein_id": "ENSP00000446007.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 466,
"cds_start": 286,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003380.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544301.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000224237.9",
"protein_id": "ENSP00000224237.5",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 466,
"cds_start": 286,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224237.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000946784.1",
"protein_id": "ENSP00000616843.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 466,
"cds_start": 286,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946784.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000881961.1",
"protein_id": "ENSP00000552020.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 463,
"cds_start": 286,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881961.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000946785.1",
"protein_id": "ENSP00000616844.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 462,
"cds_start": 286,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946785.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000881962.1",
"protein_id": "ENSP00000552021.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 452,
"cds_start": 286,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881962.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000881963.1",
"protein_id": "ENSP00000552022.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 424,
"cds_start": 286,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881963.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000946787.1",
"protein_id": "ENSP00000616846.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 418,
"cds_start": 286,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946787.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000946786.1",
"protein_id": "ENSP00000616845.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 380,
"cds_start": 286,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946786.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000478746.1",
"protein_id": "ENSP00000489830.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 148,
"cds_start": 286,
"cds_end": null,
"cds_length": 448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478746.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu",
"transcript": "ENST00000497849.1",
"protein_id": "ENSP00000490509.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 108,
"cds_start": 286,
"cds_end": null,
"cds_length": 328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "n.418T>C",
"hgvs_p": null,
"transcript": "ENST00000485947.1",
"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": "ENST00000485947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"hgvs_c": "n.286T>C",
"hgvs_p": null,
"transcript": "ENST00000487938.5",
"protein_id": "ENSP00000435613.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000487938.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM-AS1",
"gene_hgnc_id": 44879,
"hgvs_c": "n.322A>G",
"hgvs_p": null,
"transcript": "ENST00000605833.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000605833.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM-AS1",
"gene_hgnc_id": 44879,
"hgvs_c": "n.115A>G",
"hgvs_p": null,
"transcript": "ENST00000661048.2",
"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": "ENST00000661048.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIM-AS1",
"gene_hgnc_id": 44879,
"hgvs_c": "n.278A>G",
"hgvs_p": null,
"transcript": "NR_108061.1",
"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": "NR_108061.1"
}
],
"gene_symbol": "VIM",
"gene_hgnc_id": 12692,
"dbsnp": "rs774132663",
"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": 0.8614785075187683,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.822,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.929,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003380.5",
"gene_symbol": "VIM",
"hgnc_id": 12692,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Phe96Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000605833.3",
"gene_symbol": "VIM-AS1",
"hgnc_id": 44879,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322A>G",
"hgvs_p": null
}
],
"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
}