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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: 8-96609391-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=96609391&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 96609391,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002998.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "NM_002998.4",
"protein_id": "NP_002989.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 201,
"cds_start": 449,
"cds_end": null,
"cds_length": 606,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": "ENST00000302190.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002998.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000302190.9",
"protein_id": "ENSP00000307046.4",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 201,
"cds_start": 449,
"cds_end": null,
"cds_length": 606,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": "NM_002998.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302190.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "ENST00000862192.1",
"protein_id": "ENSP00000532251.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 209,
"cds_start": 473,
"cds_end": null,
"cds_length": 630,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862192.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr",
"transcript": "ENST00000932834.1",
"protein_id": "ENSP00000602893.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 201,
"cds_start": 449,
"cds_end": null,
"cds_length": 606,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932834.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Ile149Thr",
"transcript": "ENST00000862193.1",
"protein_id": "ENSP00000532252.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 200,
"cds_start": 446,
"cds_end": null,
"cds_length": 603,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862193.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "ENST00000519914.5",
"protein_id": "ENSP00000428256.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 172,
"cds_start": 362,
"cds_end": null,
"cds_length": 519,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519914.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "ENST00000522911.5",
"protein_id": "ENSP00000427784.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 172,
"cds_start": 362,
"cds_end": null,
"cds_length": 519,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522911.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Ile114Thr",
"transcript": "ENST00000518385.5",
"protein_id": "ENSP00000429045.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 165,
"cds_start": 341,
"cds_end": null,
"cds_length": 498,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518385.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "ENST00000523877.1",
"protein_id": "ENSP00000429662.2",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 144,
"cds_start": 362,
"cds_end": null,
"cds_length": 436,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523877.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "ENST00000521590.5",
"protein_id": "ENSP00000429121.1",
"transcript_support_level": 4,
"aa_start": 121,
"aa_end": null,
"aa_length": 136,
"cds_start": 362,
"cds_end": null,
"cds_length": 411,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521590.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "XM_011517212.4",
"protein_id": "XP_011515514.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 172,
"cds_start": 362,
"cds_end": null,
"cds_length": 519,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517212.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "XM_024447228.2",
"protein_id": "XP_024302996.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 172,
"cds_start": 362,
"cds_end": null,
"cds_length": 519,
"cdna_start": 8337,
"cdna_end": null,
"cdna_length": 10736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447228.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"hgvs_c": "c.362T>C",
"hgvs_p": "p.Ile121Thr",
"transcript": "XM_047422076.1",
"protein_id": "XP_047278032.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 172,
"cds_start": 362,
"cds_end": null,
"cds_length": 519,
"cdna_start": 16365,
"cdna_end": null,
"cdna_length": 18764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422076.1"
}
],
"gene_symbol": "SDC2",
"gene_hgnc_id": 10659,
"dbsnp": "rs143693366",
"frequency_reference_population": 0.00012662879,
"hom_count_reference_population": 0,
"allele_count_reference_population": 204,
"gnomad_exomes_af": 0.000129569,
"gnomad_genomes_af": 0.0000984756,
"gnomad_exomes_ac": 189,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5571722388267517,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.675,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6527,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.986,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002998.4",
"gene_symbol": "SDC2",
"hgnc_id": 10659,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.449T>C",
"hgvs_p": "p.Ile150Thr"
}
],
"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
}