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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: 4-69849527-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=69849527&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 69849527,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005420.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "NM_005420.3",
"protein_id": "NP_005411.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226444.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005420.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000226444.4",
"protein_id": "ENSP00000226444.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005420.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226444.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "n.512G>A",
"hgvs_p": null,
"transcript": "ENST00000504002.1",
"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": "ENST00000504002.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Val152Ile",
"transcript": "ENST00000904222.1",
"protein_id": "ENSP00000574281.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 310,
"cds_start": 454,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904222.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904212.1",
"protein_id": "ENSP00000574271.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904212.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904213.1",
"protein_id": "ENSP00000574272.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904213.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904214.1",
"protein_id": "ENSP00000574273.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904214.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904215.1",
"protein_id": "ENSP00000574274.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904215.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904216.1",
"protein_id": "ENSP00000574275.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904216.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904217.1",
"protein_id": "ENSP00000574276.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904217.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904218.1",
"protein_id": "ENSP00000574277.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904218.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904219.1",
"protein_id": "ENSP00000574278.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904219.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904220.1",
"protein_id": "ENSP00000574279.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904220.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "ENST00000904221.1",
"protein_id": "ENSP00000574280.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904221.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "XM_047416100.1",
"protein_id": "XP_047272056.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416100.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "XM_047416101.1",
"protein_id": "XP_047272057.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 294,
"cds_start": 406,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416101.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile",
"transcript": "XM_011532210.3",
"protein_id": "XP_011530512.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 181,
"cds_start": 406,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532210.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"hgvs_c": "n.512G>A",
"hgvs_p": null,
"transcript": "XR_007057952.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007057952.1"
}
],
"gene_symbol": "SULT1E1",
"gene_hgnc_id": 11377,
"dbsnp": "rs757405253",
"frequency_reference_population": 0.000018014549,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000157782,
"gnomad_genomes_af": 0.0000394477,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.373319149017334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.581,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1828,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.901,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_005420.3",
"gene_symbol": "SULT1E1",
"hgnc_id": 11377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Ile"
}
],
"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
}