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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: 7-3301754-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=3301754&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 3301754,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152744.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.168G>T",
"hgvs_p": "p.Glu56Asp",
"transcript": "NM_152744.4",
"protein_id": "NP_689957.3",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 2213,
"cds_start": 168,
"cds_end": null,
"cds_length": 6642,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 10593,
"mane_select": "ENST00000404826.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152744.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.168G>T",
"hgvs_p": "p.Glu56Asp",
"transcript": "ENST00000404826.7",
"protein_id": "ENSP00000385899.2",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 2213,
"cds_start": 168,
"cds_end": null,
"cds_length": 6642,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 10593,
"mane_select": "NM_152744.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404826.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.168G>T",
"hgvs_p": "p.Glu56Asp",
"transcript": "ENST00000389531.7",
"protein_id": "ENSP00000374182.3",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 2193,
"cds_start": 168,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 168,
"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+475C>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+475C>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+475C>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+475C>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+475C>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+475C>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+475C>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+475C>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+475C>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+475C>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": "rs1459318762",
"frequency_reference_population": 0.00033545314,
"hom_count_reference_population": 10,
"allele_count_reference_population": 330,
"gnomad_exomes_af": 0.000319625,
"gnomad_genomes_af": 0.000426815,
"gnomad_exomes_ac": 268,
"gnomad_genomes_ac": 62,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007158607244491577,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.268,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_152744.4",
"gene_symbol": "SDK1",
"hgnc_id": 19307,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Glu56Asp"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000437354.2",
"gene_symbol": "SDK1-AS1",
"hgnc_id": 40883,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224+475C>A",
"hgvs_p": null
}
],
"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
}