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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: 1-39965291-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39965291&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39965291,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000372811.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Tyr145Cys",
"transcript": "NM_032793.5",
"protein_id": "NP_116182.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 530,
"cds_start": 434,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "ENST00000372811.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Tyr145Cys",
"transcript": "ENST00000372811.10",
"protein_id": "ENSP00000361898.6",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 530,
"cds_start": 434,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": "NM_032793.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "n.569A>G",
"hgvs_p": null,
"transcript": "ENST00000483824.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "NM_001287808.2",
"protein_id": "NP_001274737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "ENST00000420632.6",
"protein_id": "ENSP00000391261.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "NM_001136493.3",
"protein_id": "NP_001129965.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 543,
"cds_start": 473,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000372809.5",
"protein_id": "ENSP00000361895.5",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 543,
"cds_start": 473,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Tyr143Cys",
"transcript": "NM_001349821.2",
"protein_id": "NP_001336750.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 528,
"cds_start": 428,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Tyr145Cys",
"transcript": "NM_001349822.2",
"protein_id": "NP_001336751.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 502,
"cds_start": 434,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Tyr108Cys",
"transcript": "NM_001287809.2",
"protein_id": "NP_001274738.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 491,
"cds_start": 323,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Tyr30Cys",
"transcript": "NM_001349823.2",
"protein_id": "NP_001336752.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 415,
"cds_start": 89,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Tyr143Cys",
"transcript": "ENST00000434861.5",
"protein_id": "ENSP00000407606.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 265,
"cds_start": 428,
"cds_end": null,
"cds_length": 799,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Tyr143Cys",
"transcript": "XM_047432490.1",
"protein_id": "XP_047288446.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 500,
"cds_start": 428,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "n.346A>G",
"hgvs_p": null,
"transcript": "ENST00000469745.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "n.1081A>G",
"hgvs_p": null,
"transcript": "ENST00000480630.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "n.582A>G",
"hgvs_p": null,
"transcript": "NR_109896.2",
"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": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "NM_001287808.2",
"protein_id": "NP_001274737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "ENST00000420632.6",
"protein_id": "ENSP00000391261.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MFSD2A",
"gene_hgnc_id": 25897,
"dbsnp": "rs368599958",
"frequency_reference_population": 0.00009295419,
"hom_count_reference_population": 0,
"allele_count_reference_population": 150,
"gnomad_exomes_af": 0.000091663,
"gnomad_genomes_af": 0.000105387,
"gnomad_exomes_ac": 134,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4213391840457916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.504,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0685,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.85,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "BP4,BS1_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000372811.10",
"gene_symbol": "MFSD2A",
"hgnc_id": 25897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.434A>G",
"hgvs_p": "p.Tyr145Cys"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}