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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: 7-3301829-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=3301829&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 3301829,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_152744.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK1",
"gene_hgnc_id": 19307,
"hgvs_c": "c.243C>T",
"hgvs_p": "p.Arg81Arg",
"transcript": "NM_152744.4",
"protein_id": "NP_689957.3",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 2213,
"cds_start": 243,
"cds_end": null,
"cds_length": 6642,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 10593,
"mane_select": "ENST00000404826.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152744.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK1",
"gene_hgnc_id": 19307,
"hgvs_c": "c.243C>T",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000404826.7",
"protein_id": "ENSP00000385899.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 2213,
"cds_start": 243,
"cds_end": null,
"cds_length": 6642,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 10593,
"mane_select": "NM_152744.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404826.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDK1",
"gene_hgnc_id": 19307,
"hgvs_c": "c.243C>T",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000389531.7",
"protein_id": "ENSP00000374182.3",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 2193,
"cds_start": 243,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389531.7"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.224+400G>A",
"hgvs_p": null,
"transcript": "ENST00000437354.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000437354.2"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.296+400G>A",
"hgvs_p": null,
"transcript": "ENST00000837657.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837657.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.34+400G>A",
"hgvs_p": null,
"transcript": "ENST00000837658.1",
"protein_id": null,
"transcript_support_level": null,
"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": 968,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837658.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.212+400G>A",
"hgvs_p": null,
"transcript": "ENST00000837659.1",
"protein_id": null,
"transcript_support_level": null,
"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": 715,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837659.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.257+400G>A",
"hgvs_p": null,
"transcript": "ENST00000837660.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837660.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.173+400G>A",
"hgvs_p": null,
"transcript": "ENST00000837661.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000837661.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.49857+400G>A",
"hgvs_p": null,
"transcript": "XR_001744897.3",
"protein_id": null,
"transcript_support_level": null,
"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": 51431,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744897.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.49857+400G>A",
"hgvs_p": null,
"transcript": "XR_001744898.3",
"protein_id": null,
"transcript_support_level": null,
"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": 52846,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744898.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.49857+400G>A",
"hgvs_p": null,
"transcript": "XR_007060194.1",
"protein_id": null,
"transcript_support_level": null,
"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": 53533,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060194.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDK1-AS1",
"gene_hgnc_id": 40883,
"hgvs_c": "n.49857+400G>A",
"hgvs_p": null,
"transcript": "XR_926997.4",
"protein_id": null,
"transcript_support_level": null,
"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": 51675,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_926997.4"
}
],
"gene_symbol": "SDK1",
"gene_hgnc_id": 19307,
"dbsnp": "rs542888434",
"frequency_reference_population": 0.0000026905684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000207017,
"gnomad_genomes_af": 0.00000671574,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.238,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_152744.4",
"gene_symbol": "SDK1",
"hgnc_id": 19307,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.243C>T",
"hgvs_p": "p.Arg81Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000437354.2",
"gene_symbol": "SDK1-AS1",
"hgnc_id": 40883,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224+400G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}