← 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: 2-20203850-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=20203850&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 20203850,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002997.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Ser197Cys",
"transcript": "NM_002997.5",
"protein_id": "NP_002988.4",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 310,
"cds_start": 590,
"cds_end": null,
"cds_length": 933,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "ENST00000254351.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002997.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Ser197Cys",
"transcript": "ENST00000254351.9",
"protein_id": "ENSP00000254351.4",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 310,
"cds_start": 590,
"cds_end": null,
"cds_length": 933,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "NM_002997.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254351.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.478+112C>G",
"hgvs_p": null,
"transcript": "ENST00000403076.5",
"protein_id": "ENSP00000384613.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403076.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Ser197Cys",
"transcript": "NM_001006946.2",
"protein_id": "NP_001006947.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 310,
"cds_start": 590,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006946.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Ser197Cys",
"transcript": "ENST00000381150.5",
"protein_id": "ENSP00000370542.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 310,
"cds_start": 590,
"cds_end": null,
"cds_length": 933,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381150.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Ser195Cys",
"transcript": "ENST00000917369.1",
"protein_id": "ENSP00000587428.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 308,
"cds_start": 584,
"cds_end": null,
"cds_length": 927,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917369.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Ser168Cys",
"transcript": "ENST00000852541.1",
"protein_id": "ENSP00000522600.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 281,
"cds_start": 503,
"cds_end": null,
"cds_length": 846,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852541.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.497C>G",
"hgvs_p": "p.Ser166Cys",
"transcript": "ENST00000852542.1",
"protein_id": "ENSP00000522601.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 279,
"cds_start": 497,
"cds_end": null,
"cds_length": 840,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852542.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.614C>G",
"hgvs_p": "p.Ser205Cys",
"transcript": "ENST00000429035.1",
"protein_id": "ENSP00000400773.1",
"transcript_support_level": 3,
"aa_start": 205,
"aa_end": null,
"aa_length": 214,
"cds_start": 614,
"cds_end": null,
"cds_length": 646,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429035.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ser66Cys",
"transcript": "ENST00000970834.1",
"protein_id": "ENSP00000640893.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 179,
"cds_start": 197,
"cds_end": null,
"cds_length": 540,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970834.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.662C>G",
"hgvs_p": "p.Ser221Cys",
"transcript": "XM_005262620.5",
"protein_id": "XP_005262677.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 334,
"cds_start": 662,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262620.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ser192Cys",
"transcript": "XM_005262621.3",
"protein_id": "XP_005262678.3",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 305,
"cds_start": 575,
"cds_end": null,
"cds_length": 918,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262621.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "XM_005262622.3",
"protein_id": "XP_005262679.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 292,
"cds_start": 536,
"cds_end": null,
"cds_length": 879,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262622.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"hgvs_c": "n.*152C>G",
"hgvs_p": null,
"transcript": "ENST00000482879.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482879.5"
}
],
"gene_symbol": "SDC1",
"gene_hgnc_id": 10658,
"dbsnp": "rs147736626",
"frequency_reference_population": 6.8865495e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88655e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17073330283164978,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.1567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.974,
"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_002997.5",
"gene_symbol": "SDC1",
"hgnc_id": 10658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.590C>G",
"hgvs_p": "p.Ser197Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}