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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: 5-133199528-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=133199528&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 133199528,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015082.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.2096G>T",
"hgvs_p": "p.Arg699Leu",
"transcript": "NM_015082.2",
"protein_id": "NP_055897.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 842,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": "ENST00000265342.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015082.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.2096G>T",
"hgvs_p": "p.Arg699Leu",
"transcript": "ENST00000265342.12",
"protein_id": "ENSP00000265342.7",
"transcript_support_level": 5,
"aa_start": 699,
"aa_end": null,
"aa_length": 842,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": "NM_015082.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265342.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.2198G>T",
"hgvs_p": "p.Arg733Leu",
"transcript": "ENST00000897474.1",
"protein_id": "ENSP00000567533.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 876,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897474.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.2069G>T",
"hgvs_p": "p.Arg690Leu",
"transcript": "ENST00000897473.1",
"protein_id": "ENSP00000567532.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 833,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897473.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.2096G>T",
"hgvs_p": "p.Arg699Leu",
"transcript": "XM_011543283.2",
"protein_id": "XP_011541585.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 842,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543283.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.2069G>T",
"hgvs_p": "p.Arg690Leu",
"transcript": "XM_011543284.3",
"protein_id": "XP_011541586.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 833,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543284.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.1673G>T",
"hgvs_p": "p.Arg558Leu",
"transcript": "XM_011543286.4",
"protein_id": "XP_011541588.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 701,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543286.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Arg384Leu",
"transcript": "XM_017009251.2",
"protein_id": "XP_016864740.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 527,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009251.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "n.1314G>T",
"hgvs_p": null,
"transcript": "ENST00000509525.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509525.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000248245",
"gene_hgnc_id": null,
"hgvs_c": "n.76-8308C>A",
"hgvs_p": null,
"transcript": "ENST00000509051.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 466,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"hgvs_c": "n.*205G>T",
"hgvs_p": null,
"transcript": "ENST00000511375.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000511375.1"
}
],
"gene_symbol": "FSTL4",
"gene_hgnc_id": 21389,
"dbsnp": "rs149501035",
"frequency_reference_population": 0.000013139741,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131397,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7385508418083191,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.2898,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.84,
"phylop100way_prediction": "Uncertain_significance",
"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_015082.2",
"gene_symbol": "FSTL4",
"hgnc_id": 21389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2096G>T",
"hgvs_p": "p.Arg699Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000509051.1",
"gene_symbol": "ENSG00000248245",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.76-8308C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}