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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: 4-38797314-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=38797314&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TLR1",
"hgnc_id": 11847,
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_003263.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_score": -14,
"allele_count_reference_population": 459317,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "4",
"clinvar_classification": "Benign",
"clinvar_disease": "TLR1-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003263.4",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308979.7",
"protein_coding": true,
"protein_id": "NP_003254.2",
"strand": false,
"transcript": "NM_003263.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000308979.7",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003263.4",
"protein_coding": true,
"protein_id": "ENSP00000354932.2",
"strand": false,
"transcript": "ENST00000308979.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11620,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000502213.7",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421259.1",
"strand": false,
"transcript": "ENST00000502213.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000862584.1",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532643.1",
"strand": false,
"transcript": "ENST00000862584.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4933,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862585.1",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532644.1",
"strand": false,
"transcript": "ENST00000862585.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000862586.1",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532645.1",
"strand": false,
"transcript": "ENST00000862586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862587.1",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532646.1",
"strand": false,
"transcript": "ENST00000862587.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005262662.6",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262719.1",
"strand": false,
"transcript": "XM_005262662.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3303,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011513742.4",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512044.1",
"strand": false,
"transcript": "XM_011513742.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011513745.4",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512047.1",
"strand": false,
"transcript": "XM_011513745.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017008571.3",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864060.1",
"strand": false,
"transcript": "XM_017008571.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3288,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017008572.3",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864061.1",
"strand": false,
"transcript": "XM_017008572.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024454196.2",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "c.1518G>A",
"hgvs_p": "p.Ser506Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309964.1",
"strand": false,
"transcript": "XM_024454196.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XR_007057953.1",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "n.1715G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007057953.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007057954.1",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "n.1623G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007057954.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XR_925163.3",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "n.1792G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_925163.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XR_925165.3",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "n.1792G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_925165.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505744.6",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "n.235+3543G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000505744.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510552.2",
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"hgvs_c": "n.39-2686G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000510552.2",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs5743614",
"effect": "synonymous_variant",
"frequency_reference_population": 0.28473228,
"gene_hgnc_id": 11847,
"gene_symbol": "TLR1",
"gnomad_exomes_ac": 394851,
"gnomad_exomes_af": 0.270211,
"gnomad_exomes_homalt": 68101,
"gnomad_genomes_ac": 64466,
"gnomad_genomes_af": 0.424442,
"gnomad_genomes_homalt": 17926,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 86027,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "TLR1-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.134,
"pos": 38797314,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003263.4"
}
]
}