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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: 10-133555877-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133555877&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133555877,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001143764.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "NM_001143764.3",
"protein_id": "NP_001137236.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 351,
"cds_start": 622,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343131.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143764.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "ENST00000343131.7",
"protein_id": "ENSP00000341282.5",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 351,
"cds_start": 622,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143764.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343131.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "ENST00000303903.10",
"protein_id": "ENSP00000303978.5",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 318,
"cds_start": 622,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303903.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "n.2575C>T",
"hgvs_p": null,
"transcript": "ENST00000368520.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000368520.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Asp241Asn",
"transcript": "ENST00000863039.1",
"protein_id": "ENSP00000533098.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 384,
"cds_start": 721,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863039.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Asp209Asn",
"transcript": "ENST00000863036.1",
"protein_id": "ENSP00000533095.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 352,
"cds_start": 625,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863036.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"transcript": "ENST00000863038.1",
"protein_id": "ENSP00000533097.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 330,
"cds_start": 559,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863038.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Asp179Asn",
"transcript": "ENST00000863035.1",
"protein_id": "ENSP00000533094.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 322,
"cds_start": 535,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863035.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Asp178Asn",
"transcript": "ENST00000863037.1",
"protein_id": "ENSP00000533096.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863037.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "NM_001143763.2",
"protein_id": "NP_001137235.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 318,
"cds_start": 622,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143763.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Asp172Asn",
"transcript": "NM_130784.4",
"protein_id": "NP_570140.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 282,
"cds_start": 514,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130784.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Asp172Asn",
"transcript": "ENST00000368517.7",
"protein_id": "ENSP00000357503.3",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 282,
"cds_start": 514,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368517.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "n.1755G>A",
"hgvs_p": null,
"transcript": "ENST00000479535.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000479535.2"
}
],
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"dbsnp": "rs889352214",
"frequency_reference_population": 6.84119e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84119e-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": 0.46873435378074646,
"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": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.1331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.809,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001143764.3",
"gene_symbol": "SYCE1",
"hgnc_id": 28852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368520.1",
"gene_symbol": "CYP2E1",
"hgnc_id": 2631,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2575C>T",
"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
}