← Back to variant description
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: 10-80603648-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80603648&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80603648,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000646907.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.His238Arg",
"transcript": "NM_001388272.1",
"protein_id": "NP_001375201.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 433,
"cds_start": 713,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": "ENST00000646907.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.His238Arg",
"transcript": "ENST00000646907.2",
"protein_id": "ENSP00000494732.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 433,
"cds_start": 713,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": "NM_001388272.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.His238Arg",
"transcript": "NM_207372.2",
"protein_id": "NP_997255.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 357,
"cds_start": 713,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.His238Arg",
"transcript": "ENST00000339284.6",
"protein_id": "ENSP00000345295.2",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 357,
"cds_start": 713,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.His189Arg",
"transcript": "NM_001145719.1",
"protein_id": "NP_001139191.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 309,
"cds_start": 566,
"cds_end": null,
"cds_length": 930,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.His189Arg",
"transcript": "ENST00000313455.5",
"protein_id": "ENSP00000314242.4",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 309,
"cds_start": 566,
"cds_end": null,
"cds_length": 930,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH2D4B",
"gene_hgnc_id": 31440,
"dbsnp": "rs7075840",
"frequency_reference_population": 0.26957992,
"hom_count_reference_population": 62381,
"allele_count_reference_population": 431970,
"gnomad_exomes_af": 0.264237,
"gnomad_genomes_af": 0.320539,
"gnomad_exomes_ac": 383232,
"gnomad_genomes_ac": 48738,
"gnomad_exomes_homalt": 53936,
"gnomad_genomes_homalt": 8445,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018744468688964844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.0471,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.918,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000646907.2",
"gene_symbol": "SH2D4B",
"hgnc_id": 31440,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.713A>G",
"hgvs_p": "p.His238Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}