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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: 9-94458411-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=94458411&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 94458411,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000375344.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A2",
"gene_hgnc_id": 23376,
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Leu",
"transcript": "NM_032558.3",
"protein_id": "NP_115947.2",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 506,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": "ENST00000375344.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14B",
"gene_hgnc_id": 23376,
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Leu",
"transcript": "ENST00000375344.8",
"protein_id": "ENSP00000364493.3",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 506,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": "NM_032558.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A2",
"gene_hgnc_id": 23376,
"hgvs_c": "c.1021G>T",
"hgvs_p": "p.Val341Leu",
"transcript": "XM_017015218.2",
"protein_id": "XP_016870707.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 441,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A2",
"gene_hgnc_id": 23376,
"hgvs_c": "c.997G>T",
"hgvs_p": "p.Val333Leu",
"transcript": "XM_017015219.3",
"protein_id": "XP_016870708.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 433,
"cds_start": 997,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A2",
"gene_hgnc_id": 23376,
"hgvs_c": "c.1118G>T",
"hgvs_p": "p.Cys373Phe",
"transcript": "XM_047423972.1",
"protein_id": "XP_047279928.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 376,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC71A2",
"gene_hgnc_id": 23376,
"hgvs_c": "c.709G>T",
"hgvs_p": "p.Val237Leu",
"transcript": "XM_047423973.1",
"protein_id": "XP_047279929.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 337,
"cds_start": 709,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2769,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD14B",
"gene_hgnc_id": 23376,
"hgvs_c": "n.17G>T",
"hgvs_p": null,
"transcript": "ENST00000673506.1",
"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": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MFSD14B",
"gene_hgnc_id": 23376,
"dbsnp": "rs17851857",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.587221622467041,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4466,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.548,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375344.8",
"gene_symbol": "MFSD14B",
"hgnc_id": 23376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032558.3",
"gene_symbol": "SLC71A2",
"hgnc_id": 23376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}