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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: 4-99583418-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99583418&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99583418,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265517.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp",
"transcript": "NM_001386140.1",
"protein_id": "NP_001373069.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 894,
"cds_start": 294,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "ENST00000265517.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp",
"transcript": "ENST00000265517.10",
"protein_id": "ENSP00000265517.5",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 894,
"cds_start": 294,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": "NM_001386140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp",
"transcript": "ENST00000422897.6",
"protein_id": "ENSP00000407350.2",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 151,
"cds_start": 294,
"cds_end": null,
"cds_length": 456,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp",
"transcript": "NM_000253.4",
"protein_id": "NP_000244.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 894,
"cds_start": 294,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp",
"transcript": "ENST00000457717.6",
"protein_id": "ENSP00000400821.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 894,
"cds_start": 294,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.45G>C",
"hgvs_p": "p.Glu15Asp",
"transcript": "NM_001300785.2",
"protein_id": "NP_001287714.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 811,
"cds_start": 45,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 3881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.45G>C",
"hgvs_p": "p.Glu15Asp",
"transcript": "ENST00000511045.6",
"protein_id": "ENSP00000427679.2",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 811,
"cds_start": 45,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"hgvs_c": "c.45G>C",
"hgvs_p": "p.Glu15Asp",
"transcript": "ENST00000505094.6",
"protein_id": "ENSP00000422782.2",
"transcript_support_level": 4,
"aa_start": 15,
"aa_end": null,
"aa_length": 15,
"cds_start": 45,
"cds_end": null,
"cds_length": 49,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTTP",
"gene_hgnc_id": 7467,
"dbsnp": "rs2306986",
"frequency_reference_population": 0.05093574,
"hom_count_reference_population": 3733,
"allele_count_reference_population": 82173,
"gnomad_exomes_af": 0.0473243,
"gnomad_genomes_af": 0.0856313,
"gnomad_exomes_ac": 69149,
"gnomad_genomes_ac": 13024,
"gnomad_exomes_homalt": 2724,
"gnomad_genomes_homalt": 1009,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0015475749969482422,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.225,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265517.10",
"gene_symbol": "MTTP",
"hgnc_id": 7467,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.294G>C",
"hgvs_p": "p.Glu98Asp"
}
],
"clinvar_disease": "Abetalipoproteinaemia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Abetalipoproteinaemia|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}