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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: 5-150199235-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150199235&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150199235,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014228.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Ile",
"transcript": "NM_014228.5",
"protein_id": "NP_055043.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 636,
"cds_start": 592,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230671.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014228.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Ile",
"transcript": "ENST00000230671.7",
"protein_id": "ENSP00000230671.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 636,
"cds_start": 592,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014228.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230671.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Ile",
"transcript": "ENST00000524041.1",
"protein_id": "ENSP00000428200.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 666,
"cds_start": 592,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524041.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Ile",
"transcript": "XM_017009767.2",
"protein_id": "XP_016865256.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 754,
"cds_start": 946,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009767.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Ile",
"transcript": "XM_017009768.3",
"protein_id": "XP_016865257.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 592,
"cds_start": 460,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009768.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Ile",
"transcript": "XM_017009769.3",
"protein_id": "XP_016865258.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 592,
"cds_start": 460,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009769.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Ile",
"transcript": "XM_047417586.1",
"protein_id": "XP_047273542.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 505,
"cds_start": 946,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417586.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Ile",
"transcript": "XM_047417587.1",
"protein_id": "XP_047273543.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 474,
"cds_start": 946,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"hgvs_c": "c.*40G>A",
"hgvs_p": null,
"transcript": "XM_047417588.1",
"protein_id": "XP_047273544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417588.1"
}
],
"gene_symbol": "SLC6A7",
"gene_hgnc_id": 11054,
"dbsnp": "rs770458246",
"frequency_reference_population": 0.0000106087955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000827447,
"gnomad_genomes_af": 0.0000328515,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6173798441886902,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.429,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.485,
"phylop100way_prediction": "Pathogenic",
"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": 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_014228.5",
"gene_symbol": "SLC6A7",
"hgnc_id": 11054,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Ile"
}
],
"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
}