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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: 3-45979752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45979752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45979752,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000296137.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_024513.4",
"protein_id": "NP_078789.2",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1478,
"cds_start": 241,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 8514,
"mane_select": "ENST00000296137.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "ENST00000296137.7",
"protein_id": "ENSP00000296137.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 1478,
"cds_start": 241,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 8514,
"mane_select": "NM_024513.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386421.1",
"protein_id": "NP_001373350.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1478,
"cds_start": 241,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386422.1",
"protein_id": "NP_001373351.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1478,
"cds_start": 241,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 8562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386423.1",
"protein_id": "NP_001373352.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1477,
"cds_start": 241,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 8511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386424.1",
"protein_id": "NP_001373353.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1476,
"cds_start": 241,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 7197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386425.1",
"protein_id": "NP_001373354.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1464,
"cds_start": 241,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Met",
"transcript": "NM_001386426.1",
"protein_id": "NP_001373355.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1438,
"cds_start": 121,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 8407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386427.1",
"protein_id": "NP_001373356.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1430,
"cds_start": 241,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 8370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386428.1",
"protein_id": "NP_001373357.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1430,
"cds_start": 241,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 7143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "NM_001386429.1",
"protein_id": "NP_001373358.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1426,
"cds_start": 241,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "XM_047448902.1",
"protein_id": "XP_047304858.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1478,
"cds_start": 241,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met",
"transcript": "XM_047448903.1",
"protein_id": "XP_047304859.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 1076,
"cds_start": 241,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "n.456G>A",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"hgvs_c": "c.-62+5104G>A",
"hgvs_p": null,
"transcript": "NM_001386430.1",
"protein_id": "NP_001373359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FYCO1",
"gene_hgnc_id": 14673,
"dbsnp": "rs1167055520",
"frequency_reference_population": 0.0000061957026,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547269,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.439972847700119,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.1918,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.876,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000296137.7",
"gene_symbol": "FYCO1",
"hgnc_id": 14673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Val81Met"
}
],
"clinvar_disease": "Cataract 18",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cataract 18",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}