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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: 2-222628884-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222628884&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FARSB",
"hgnc_id": 17800,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_005687.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3,PP5_Very_Strong",
"acmg_score": 11,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7307,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Rajab interstitial lung disease with brain calcifications,Rajab interstitial lung disease with brain calcifications 1,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8024987578392029,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 589,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1770,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_005687.5",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281828.8",
"protein_coding": true,
"protein_id": "NP_005678.3",
"strand": false,
"transcript": "NM_005687.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 589,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1770,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000281828.8",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005687.5",
"protein_coding": true,
"protein_id": "ENSP00000281828.6",
"strand": false,
"transcript": "ENST00000281828.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 627,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1884,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000875114.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545173.1",
"strand": false,
"transcript": "ENST00000875114.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 626,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1881,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000875112.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545171.1",
"strand": false,
"transcript": "ENST00000875112.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 598,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1797,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000875113.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545172.1",
"strand": false,
"transcript": "ENST00000875113.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 587,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1764,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938936.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608995.1",
"strand": false,
"transcript": "ENST00000938936.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 562,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1689,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938938.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608997.1",
"strand": false,
"transcript": "ENST00000938938.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 558,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1677,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000875115.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545174.1",
"strand": false,
"transcript": "ENST00000875115.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1614,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000938937.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608996.1",
"strand": false,
"transcript": "ENST00000938937.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 527,
"aa_ref": "E",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1584,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938935.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Glu223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608994.1",
"strand": false,
"transcript": "ENST00000938935.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 472,
"aa_ref": "E",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1419,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000958636.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628695.1",
"strand": false,
"transcript": "ENST00000958636.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 490,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1473,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006712169.3",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Glu186Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712232.1",
"strand": false,
"transcript": "XM_006712169.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 490,
"aa_ref": "E",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6798,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1473,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011510466.3",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Glu186Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508768.1",
"strand": false,
"transcript": "XM_011510466.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 305,
"aa_ref": "S",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 77,
"cds_end": null,
"cds_length": 918,
"cds_start": 63,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000958637.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Ser21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628696.1",
"strand": false,
"transcript": "ENST00000958637.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 506,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938939.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.58+27132G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608998.1",
"strand": false,
"transcript": "ENST00000938939.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 69,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 350,
"cdna_start": null,
"cds_end": null,
"cds_length": 210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938940.1",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "c.58+27132G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608999.1",
"strand": false,
"transcript": "ENST00000938940.1",
"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": 6957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_130154.2",
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"hgvs_c": "n.1068G>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": "NR_130154.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs767956337",
"effect": "missense_variant",
"frequency_reference_population": 0.000003433118,
"gene_hgnc_id": 17800,
"gene_symbol": "FARSB",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000343312,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Rajab interstitial lung disease with brain calcifications|Rajab interstitial lung disease with brain calcifications 1|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.605,
"pos": 222628884,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.439,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005687.5"
}
]
}