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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: 5-53485119-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=53485119&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 53485119,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013409.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Pro282Ala",
"transcript": "NM_013409.3",
"protein_id": "NP_037541.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256759.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013409.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Pro282Ala",
"transcript": "ENST00000256759.8",
"protein_id": "ENSP00000256759.3",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013409.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256759.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Pro295Ala",
"transcript": "ENST00000901914.1",
"protein_id": "ENSP00000571973.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 357,
"cds_start": 883,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901914.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Pro294Ala",
"transcript": "ENST00000918518.1",
"protein_id": "ENSP00000588577.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 356,
"cds_start": 880,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918518.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Pro282Ala",
"transcript": "NM_006350.5",
"protein_id": "NP_006341.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 317,
"cds_start": 844,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006350.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Pro282Ala",
"transcript": "ENST00000396947.7",
"protein_id": "ENSP00000380151.2",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 317,
"cds_start": 844,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396947.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Pro207Ala",
"transcript": "ENST00000953332.1",
"protein_id": "ENSP00000623391.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 269,
"cds_start": 619,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953332.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Pro153Ala",
"transcript": "ENST00000504226.5",
"protein_id": "ENSP00000426315.1",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 215,
"cds_start": 457,
"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": "ENST00000504226.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Pro66Ala",
"transcript": "ENST00000497789.2",
"protein_id": "ENSP00000426971.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 101,
"cds_start": 196,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497789.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Pro295Ala",
"transcript": "XM_005248400.5",
"protein_id": "XP_005248457.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 357,
"cds_start": 883,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248400.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Pro290Ala",
"transcript": "XM_011543099.3",
"protein_id": "XP_011541401.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 352,
"cds_start": 868,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543099.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.841C>G",
"hgvs_p": "p.Pro281Ala",
"transcript": "XM_005248401.5",
"protein_id": "XP_005248458.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 343,
"cds_start": 841,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248401.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Pro276Ala",
"transcript": "XM_024454326.2",
"protein_id": "XP_024310094.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 338,
"cds_start": 826,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454326.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Pro295Ala",
"transcript": "XM_017008954.2",
"protein_id": "XP_016864443.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 337,
"cds_start": 883,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008954.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Pro295Ala",
"transcript": "XM_005248402.5",
"protein_id": "XP_005248459.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 330,
"cds_start": 883,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248402.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Pro282Ala",
"transcript": "XM_047416631.1",
"protein_id": "XP_047272587.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 324,
"cds_start": 844,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416631.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"hgvs_c": "c.841C>G",
"hgvs_p": "p.Pro281Ala",
"transcript": "XM_005248403.5",
"protein_id": "XP_005248460.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 316,
"cds_start": 841,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248403.5"
}
],
"gene_symbol": "FST",
"gene_hgnc_id": 3971,
"dbsnp": "rs142670747",
"frequency_reference_population": 0.000009305962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000959064,
"gnomad_genomes_af": 0.00000657402,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1418086290359497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0525,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.551,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013409.3",
"gene_symbol": "FST",
"hgnc_id": 3971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Pro282Ala"
}
],
"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
}