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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: 17-78870936-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78870936&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78870936,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003255.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "NM_003255.5",
"protein_id": "NP_003246.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 220,
"cds_start": 302,
"cds_end": null,
"cds_length": 663,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "ENST00000262768.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu",
"transcript": "ENST00000262768.11",
"protein_id": "ENSP00000262768.6",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 220,
"cds_start": 302,
"cds_end": null,
"cds_length": 663,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": "NM_003255.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ser24Leu",
"transcript": "ENST00000586057.5",
"protein_id": "ENSP00000468296.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 143,
"cds_start": 71,
"cds_end": null,
"cds_length": 432,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "n.389C>T",
"hgvs_p": null,
"transcript": "ENST00000592761.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ser24Leu",
"transcript": "ENST00000536189.6",
"protein_id": "ENSP00000441724.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 143,
"cds_start": 71,
"cds_end": null,
"cds_length": 432,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ser24Leu",
"transcript": "ENST00000585421.5",
"protein_id": "ENSP00000467584.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 143,
"cds_start": 71,
"cds_end": null,
"cds_length": 432,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Ser24Leu",
"transcript": "ENST00000586713.6",
"protein_id": "ENSP00000465968.2",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 143,
"cds_start": 71,
"cds_end": null,
"cds_length": 432,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "n.71C>T",
"hgvs_p": null,
"transcript": "ENST00000706922.1",
"protein_id": "ENSP00000516642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"hgvs_c": "n.71C>T",
"hgvs_p": null,
"transcript": "ENST00000706923.1",
"protein_id": "ENSP00000516643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TIMP2",
"gene_hgnc_id": 11821,
"dbsnp": "rs368947971",
"frequency_reference_population": 0.000037180525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000383161,
"gnomad_genomes_af": 0.0000262778,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47621214389801025,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.308,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1012,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.904,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003255.5",
"gene_symbol": "TIMP2",
"hgnc_id": 11821,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ser101Leu"
}
],
"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
}