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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: 1-248812315-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=248812315&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 248812315,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030645.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.767G>T",
"hgvs_p": "p.Arg256Leu",
"transcript": "NM_030645.3",
"protein_id": "NP_085148.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 393,
"cds_start": 767,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": "ENST00000366472.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.767G>T",
"hgvs_p": "p.Arg256Leu",
"transcript": "ENST00000366472.6",
"protein_id": "ENSP00000355428.5",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 393,
"cds_start": 767,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": "NM_030645.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "NM_001322462.1",
"protein_id": "NP_001309391.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 274,
"cds_start": 410,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.410G>T",
"hgvs_p": "p.Arg137Leu",
"transcript": "NM_001322463.1",
"protein_id": "NP_001309392.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 274,
"cds_start": 410,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.266G>T",
"hgvs_p": "p.Arg89Leu",
"transcript": "NM_001322464.2",
"protein_id": "NP_001309393.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 226,
"cds_start": 266,
"cds_end": null,
"cds_length": 681,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "XM_047431089.1",
"protein_id": "XP_047287045.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 251,
"cds_start": 341,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "XM_047431099.1",
"protein_id": "XP_047287055.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 251,
"cds_start": 341,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Arg114Leu",
"transcript": "XM_047431109.1",
"protein_id": "XP_047287065.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 251,
"cds_start": 341,
"cds_end": null,
"cds_length": 756,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3394,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "n.2259G>T",
"hgvs_p": null,
"transcript": "ENST00000475978.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4122,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"hgvs_c": "n.1241G>T",
"hgvs_p": null,
"transcript": "ENST00000484202.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH3BP5L",
"gene_hgnc_id": 29360,
"dbsnp": "rs373033623",
"frequency_reference_population": 0.000002483855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000137165,
"gnomad_genomes_af": 0.0000131316,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17702433466911316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.754,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4286,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.35,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030645.3",
"gene_symbol": "SH3BP5L",
"hgnc_id": 29360,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.767G>T",
"hgvs_p": "p.Arg256Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}