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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: 17-73348607-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=73348607&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 73348607,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001144952.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "c.6157G>A",
"hgvs_p": "p.Asp2053Asn",
"transcript": "NM_001144952.2",
"protein_id": "NP_001138424.1",
"transcript_support_level": null,
"aa_start": 2053,
"aa_end": null,
"aa_length": 2172,
"cds_start": 6157,
"cds_end": null,
"cds_length": 6519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392650.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144952.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "c.6157G>A",
"hgvs_p": "p.Asp2053Asn",
"transcript": "ENST00000392650.8",
"protein_id": "ENSP00000376421.3",
"transcript_support_level": 5,
"aa_start": 2053,
"aa_end": null,
"aa_length": 2172,
"cds_start": 6157,
"cds_end": null,
"cds_length": 6519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144952.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392650.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "c.3628G>A",
"hgvs_p": "p.Asp1210Asn",
"transcript": "ENST00000424778.1",
"protein_id": "ENSP00000407098.1",
"transcript_support_level": 5,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3628,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424778.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "c.6100G>A",
"hgvs_p": "p.Asp2034Asn",
"transcript": "XM_011524914.3",
"protein_id": "XP_011523216.1",
"transcript_support_level": null,
"aa_start": 2034,
"aa_end": null,
"aa_length": 2153,
"cds_start": 6100,
"cds_end": null,
"cds_length": 6462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524914.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "c.6157G>A",
"hgvs_p": "p.Asp2053Asn",
"transcript": "XM_011524915.3",
"protein_id": "XP_011523217.1",
"transcript_support_level": null,
"aa_start": 2053,
"aa_end": null,
"aa_length": 2135,
"cds_start": 6157,
"cds_end": null,
"cds_length": 6408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524915.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "c.6100G>A",
"hgvs_p": "p.Asp2034Asn",
"transcript": "XM_047436313.1",
"protein_id": "XP_047292269.1",
"transcript_support_level": null,
"aa_start": 2034,
"aa_end": null,
"aa_length": 2116,
"cds_start": 6100,
"cds_end": null,
"cds_length": 6351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436313.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"hgvs_c": "n.1230G>A",
"hgvs_p": null,
"transcript": "ENST00000410094.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000410094.5"
}
],
"gene_symbol": "SDK2",
"gene_hgnc_id": 19308,
"dbsnp": "rs761734155",
"frequency_reference_population": 0.00009674467,
"hom_count_reference_population": 0,
"allele_count_reference_population": 156,
"gnomad_exomes_af": 0.0000979294,
"gnomad_genomes_af": 0.0000853825,
"gnomad_exomes_ac": 143,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28460919857025146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.2242,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.716,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001144952.2",
"gene_symbol": "SDK2",
"hgnc_id": 19308,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6157G>A",
"hgvs_p": "p.Asp2053Asn"
}
],
"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
}