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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: 18-46680320-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46680320&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46680320,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001307986.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Val285Leu",
"transcript": "NM_013305.6",
"protein_id": "NP_037437.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 376,
"cds_start": 853,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000315087.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013305.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Val285Leu",
"transcript": "ENST00000315087.12",
"protein_id": "ENSP00000321343.6",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 376,
"cds_start": 853,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013305.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315087.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "NM_001307986.2",
"protein_id": "NP_001294915.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 412,
"cds_start": 961,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307986.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu",
"transcript": "ENST00000538168.5",
"protein_id": "ENSP00000445492.1",
"transcript_support_level": 2,
"aa_start": 321,
"aa_end": null,
"aa_length": 412,
"cds_start": 961,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538168.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Val316Leu",
"transcript": "ENST00000911623.1",
"protein_id": "ENSP00000581682.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 407,
"cds_start": 946,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911623.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Val290Leu",
"transcript": "ENST00000906003.1",
"protein_id": "ENSP00000576062.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 381,
"cds_start": 868,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906003.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Val280Leu",
"transcript": "ENST00000951068.1",
"protein_id": "ENSP00000621127.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 371,
"cds_start": 838,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951068.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Val254Leu",
"transcript": "NM_001307987.2",
"protein_id": "NP_001294916.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 345,
"cds_start": 760,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307987.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.760G>C",
"hgvs_p": "p.Val254Leu",
"transcript": "ENST00000536490.1",
"protein_id": "ENSP00000443683.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 345,
"cds_start": 760,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536490.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.508G>C",
"hgvs_p": "p.Val170Leu",
"transcript": "ENST00000906002.1",
"protein_id": "ENSP00000576061.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 261,
"cds_start": 508,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906002.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "c.415G>C",
"hgvs_p": "p.Val139Leu",
"transcript": "ENST00000906001.1",
"protein_id": "ENSP00000576060.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 230,
"cds_start": 415,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906001.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "n.1017G>C",
"hgvs_p": null,
"transcript": "ENST00000590497.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000590497.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"hgvs_c": "n.*48G>C",
"hgvs_p": null,
"transcript": "ENST00000587428.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587428.1"
}
],
"gene_symbol": "ST8SIA5",
"gene_hgnc_id": 17827,
"dbsnp": "rs201140949",
"frequency_reference_population": 6.8405444e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84054e-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": 0.21136075258255005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.5236,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.118,
"phylop100way_prediction": "Uncertain_significance",
"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_001307986.2",
"gene_symbol": "ST8SIA5",
"hgnc_id": 17827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Val321Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}