← Back to variant description
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: 1-173186806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173186806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173186806,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003326.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_003326.5",
"protein_id": "NP_003317.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281834.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003326.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000281834.4",
"protein_id": "ENSP00000281834.3",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003326.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281834.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Val38Met",
"transcript": "ENST00000367718.5",
"protein_id": "ENSP00000356691.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 133,
"cds_start": 112,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367718.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000714430.1",
"protein_id": "ENSP00000519699.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714430.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000714470.1",
"protein_id": "ENSP00000519727.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714470.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000714471.1",
"protein_id": "ENSP00000519728.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714471.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000899982.1",
"protein_id": "ENSP00000570041.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899982.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000963049.1",
"protein_id": "ENSP00000633108.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 183,
"cds_start": 262,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963049.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Val38Met",
"transcript": "NM_001297562.2",
"protein_id": "NP_001284491.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 133,
"cds_start": 112,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297562.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Met",
"transcript": "XM_011509964.3",
"protein_id": "XP_011508266.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 279,
"cds_start": 550,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509964.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Met",
"transcript": "XM_047429896.1",
"protein_id": "XP_047285852.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 235,
"cds_start": 418,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429896.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Val120Met",
"transcript": "XM_017002228.2",
"protein_id": "XP_016857717.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 215,
"cds_start": 358,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002228.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.289G>A",
"hgvs_p": "p.Val97Met",
"transcript": "XM_047429902.1",
"protein_id": "XP_047285858.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 192,
"cds_start": 289,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.202+1715G>A",
"hgvs_p": null,
"transcript": "ENST00000714429.1",
"protein_id": "ENSP00000519698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "c.298+1715G>A",
"hgvs_p": null,
"transcript": "XM_047429908.1",
"protein_id": "XP_047285864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "n.409+1715G>A",
"hgvs_p": null,
"transcript": "ENST00000714452.1",
"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": "ENST00000714452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "n.294+1715G>A",
"hgvs_p": null,
"transcript": "ENST00000714453.1",
"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": "ENST00000714453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"hgvs_c": "n.740+1715G>A",
"hgvs_p": null,
"transcript": "ENST00000714469.1",
"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": "ENST00000714469.1"
}
],
"gene_symbol": "TNFSF4",
"gene_hgnc_id": 11934,
"dbsnp": "rs745541182",
"frequency_reference_population": 0.0000054763764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547638,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22202053666114807,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.342,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.284,
"phylop100way_prediction": "Benign",
"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_003326.5",
"gene_symbol": "TNFSF4",
"hgnc_id": 11934,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met"
}
],
"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
}