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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: 6-150389520-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=150389520&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 150389520,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000344419.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "NM_203395.3",
"protein_id": "NP_981932.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 289,
"cds_start": 347,
"cds_end": null,
"cds_length": 870,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 8622,
"mane_select": "ENST00000344419.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000344419.8",
"protein_id": "ENSP00000343763.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 289,
"cds_start": 347,
"cds_end": null,
"cds_length": 870,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 8622,
"mane_select": "NM_203395.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000229447.9",
"protein_id": "ENSP00000229447.5",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 293,
"cds_start": 347,
"cds_end": null,
"cds_length": 882,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 7513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000392255.7",
"protein_id": "ENSP00000376084.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 270,
"cds_start": 347,
"cds_end": null,
"cds_length": 813,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000392256.6",
"protein_id": "ENSP00000376085.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 347,
"cds_end": null,
"cds_length": 744,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.182T>C",
"hgvs_p": "p.Ile61Thr",
"transcript": "ENST00000425615.3",
"protein_id": "ENSP00000390081.3",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 192,
"cds_start": 182,
"cds_end": null,
"cds_length": 579,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 684,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "n.347T>C",
"hgvs_p": null,
"transcript": "ENST00000367335.7",
"protein_id": "ENSP00000356304.3",
"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": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "n.179+45T>C",
"hgvs_p": null,
"transcript": "ENST00000422583.2",
"protein_id": "ENSP00000397342.2",
"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": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "NM_001164694.2",
"protein_id": "NP_001158166.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 293,
"cds_start": 347,
"cds_end": null,
"cds_length": 882,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 8734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "ENST00000500320.7",
"protein_id": "ENSP00000441276.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 284,
"cds_start": 347,
"cds_end": null,
"cds_length": 855,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr",
"transcript": "NM_001164695.2",
"protein_id": "NP_001158167.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 347,
"cds_end": null,
"cds_length": 744,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 8683,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "n.290T>C",
"hgvs_p": null,
"transcript": "ENST00000546121.1",
"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": 400,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "n.367T>C",
"hgvs_p": null,
"transcript": "NR_134655.2",
"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": 8795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"hgvs_c": "c.124+45T>C",
"hgvs_p": null,
"transcript": "NM_001318495.2",
"protein_id": "NP_001305424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IYD",
"gene_hgnc_id": 21071,
"dbsnp": "rs121918139",
"frequency_reference_population": 0.0000027364085,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273641,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9871541261672974,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.892,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1574,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.952,
"phylop100way_prediction": "Uncertain_significance",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000344419.8",
"gene_symbol": "IYD",
"hgnc_id": 21071,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Ile116Thr"
}
],
"clinvar_disease": "Iodotyrosine deiodination defect",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Iodotyrosine deiodination defect",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}