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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: 3-45923752-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45923752&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45923752,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024513.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "NM_024513.4",
"protein_id": "NP_078789.2",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296137.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024513.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "ENST00000296137.7",
"protein_id": "ENSP00000296137.2",
"transcript_support_level": 1,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024513.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296137.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "NM_001386421.1",
"protein_id": "NP_001373350.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386421.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "NM_001386422.1",
"protein_id": "NP_001373351.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386422.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "ENST00000874259.1",
"protein_id": "ENSP00000544318.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874259.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "ENST00000965269.1",
"protein_id": "ENSP00000635328.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965269.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "ENST00000965270.1",
"protein_id": "ENSP00000635329.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965270.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "ENST00000965271.1",
"protein_id": "ENSP00000635330.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965271.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4262C>T",
"hgvs_p": "p.Thr1421Met",
"transcript": "NM_001386423.1",
"protein_id": "NP_001373352.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4262,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386423.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "NM_001386425.1",
"protein_id": "NP_001373354.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386425.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4145C>T",
"hgvs_p": "p.Thr1382Met",
"transcript": "NM_001386426.1",
"protein_id": "NP_001373355.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1438,
"cds_start": 4145,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386426.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4121C>T",
"hgvs_p": "p.Thr1374Met",
"transcript": "NM_001386427.1",
"protein_id": "NP_001373356.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386427.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.3665C>T",
"hgvs_p": "p.Thr1222Met",
"transcript": "NM_001386430.1",
"protein_id": "NP_001373359.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3665,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386430.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Thr210Met",
"transcript": "ENST00000433878.5",
"protein_id": "ENSP00000388136.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 266,
"cds_start": 629,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433878.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Thr93Met",
"transcript": "ENST00000438446.1",
"protein_id": "ENSP00000398517.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 149,
"cds_start": 278,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438446.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met",
"transcript": "XM_047448902.1",
"protein_id": "XP_047304858.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4265,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.4252-4687C>T",
"hgvs_p": null,
"transcript": "NM_001386429.1",
"protein_id": "NP_001373358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1426,
"cds_start": null,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "n.4480C>T",
"hgvs_p": null,
"transcript": "NR_170107.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170107.1"
}
],
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"dbsnp": "rs35678722",
"frequency_reference_population": 0.00081931957,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1322,
"gnomad_exomes_af": 0.0005242,
"gnomad_genomes_af": 0.00365165,
"gnomad_exomes_ac": 766,
"gnomad_genomes_ac": 556,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005891770124435425,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.599,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_024513.4",
"gene_symbol": "FYCO1",
"hgnc_id": 14673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4265C>T",
"hgvs_p": "p.Thr1422Met"
}
],
"clinvar_disease": "Cataract 18,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Cataract 18|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}