← 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: 2-96661725-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96661725&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96661725,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000624922.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "NM_001293083.2",
"protein_id": "NP_001280012.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2057,
"cds_start": 952,
"cds_end": null,
"cds_length": 6174,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": "ENST00000624922.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "ENST00000624922.6",
"protein_id": "ENSP00000485238.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 2057,
"cds_start": 952,
"cds_end": null,
"cds_length": 6174,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": "NM_001293083.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "ENST00000623019.5",
"protein_id": "ENSP00000493220.1",
"transcript_support_level": 6,
"aa_start": 301,
"aa_end": null,
"aa_length": 2093,
"cds_start": 901,
"cds_end": null,
"cds_length": 6282,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 6477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512110.3",
"protein_id": "XP_011510412.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2066,
"cds_start": 952,
"cds_end": null,
"cds_length": 6201,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512111.3",
"protein_id": "XP_011510413.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2065,
"cds_start": 952,
"cds_end": null,
"cds_length": 6198,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_017005222.2",
"protein_id": "XP_016860711.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2065,
"cds_start": 952,
"cds_end": null,
"cds_length": 6198,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512113.3",
"protein_id": "XP_011510415.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2064,
"cds_start": 952,
"cds_end": null,
"cds_length": 6195,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512114.3",
"protein_id": "XP_011510416.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2056,
"cds_start": 952,
"cds_end": null,
"cds_length": 6171,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512115.3",
"protein_id": "XP_011510417.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2043,
"cds_start": 952,
"cds_end": null,
"cds_length": 6132,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512116.3",
"protein_id": "XP_011510418.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2037,
"cds_start": 952,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512117.3",
"protein_id": "XP_011510419.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2031,
"cds_start": 952,
"cds_end": null,
"cds_length": 6096,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Ala278Thr",
"transcript": "XM_011512118.3",
"protein_id": "XP_011510420.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 2026,
"cds_start": 832,
"cds_end": null,
"cds_length": 6081,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512119.3",
"protein_id": "XP_011510421.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 2012,
"cds_start": 952,
"cds_end": null,
"cds_length": 6039,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Ala248Thr",
"transcript": "XM_011512120.3",
"protein_id": "XP_011510422.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 1996,
"cds_start": 742,
"cds_end": null,
"cds_length": 5991,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512122.3",
"protein_id": "XP_011510424.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1947,
"cds_start": 952,
"cds_end": null,
"cds_length": 5844,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512125.3",
"protein_id": "XP_011510427.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1454,
"cds_start": 952,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512126.3",
"protein_id": "XP_011510428.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1366,
"cds_start": 952,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512127.3",
"protein_id": "XP_011510429.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1277,
"cds_start": 952,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr",
"transcript": "XM_011512128.4",
"protein_id": "XP_011510430.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1269,
"cds_start": 952,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FER1L5",
"gene_hgnc_id": 19044,
"dbsnp": "rs749485474",
"frequency_reference_population": 7.1459607e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14596e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05261969566345215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.819,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000624922.6",
"gene_symbol": "FER1L5",
"hgnc_id": 19044,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Ala318Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}