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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: 4-99613133-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99613133&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99613133,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000265517.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.2212delT",
"hgvs_p": "p.Ser738fs",
"transcript": "NM_001386140.1",
"protein_id": "NP_001373069.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 894,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "ENST00000265517.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.2212delT",
"hgvs_p": "p.Ser738fs",
"transcript": "ENST00000265517.10",
"protein_id": "ENSP00000265517.5",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 894,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "NM_001386140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.2212delT",
"hgvs_p": "p.Ser738fs",
"transcript": "NM_000253.4",
"protein_id": "NP_000244.2",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 894,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.2212delT",
"hgvs_p": "p.Ser738fs",
"transcript": "ENST00000457717.6",
"protein_id": "ENSP00000400821.1",
"transcript_support_level": 5,
"aa_start": 738,
"aa_end": null,
"aa_length": 894,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.1963delT",
"hgvs_p": "p.Ser655fs",
"transcript": "NM_001300785.2",
"protein_id": "NP_001287714.2",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 811,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.1963delT",
"hgvs_p": "p.Ser655fs",
"transcript": "ENST00000511045.6",
"protein_id": "ENSP00000427679.2",
"transcript_support_level": 2,
"aa_start": 655,
"aa_end": null,
"aa_length": 811,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248676",
"gene_hgnc_id": null,
"hgvs_c": "n.216+7753delA",
"hgvs_p": null,
"transcript": "ENST00000508578.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248676",
"gene_hgnc_id": null,
"hgvs_c": "n.214+7753delA",
"hgvs_p": null,
"transcript": "ENST00000807449.1",
"protein_id": null,
"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": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"dbsnp": "rs755681036",
"frequency_reference_population": 0.0000034243103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342431,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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,
"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": 1.11,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000265517.10",
"gene_symbol": "MTTP",
"hgnc_id": 7467,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2212delT",
"hgvs_p": "p.Ser738fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000807449.1",
"gene_symbol": "ENSG00000248676",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.214+7753delA",
"hgvs_p": null
}
],
"clinvar_disease": "Abetalipoproteinaemia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Abetalipoproteinaemia|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}