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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: 16-370043-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=370043&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 370043,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000199706.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "NM_006428.5",
"protein_id": "NP_006419.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 176,
"cds_end": null,
"cds_length": 771,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": "ENST00000199706.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000199706.13",
"protein_id": "ENSP00000199706.7",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 176,
"cds_end": null,
"cds_length": 771,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": "NM_006428.5",
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "n.192G>C",
"hgvs_p": null,
"transcript": "ENST00000469744.1",
"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": 1467,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "n.194G>C",
"hgvs_p": null,
"transcript": "ENST00000483764.5",
"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": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000389675.6",
"protein_id": "ENSP00000374326.2",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 176,
"cds_end": null,
"cds_length": 771,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000648346.1",
"protein_id": "ENSP00000497004.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 176,
"cds_end": null,
"cds_length": 771,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000441883.5",
"protein_id": "ENSP00000398684.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 239,
"cds_start": 176,
"cds_end": null,
"cds_length": 722,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000447696.5",
"protein_id": "ENSP00000390399.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 217,
"cds_start": 176,
"cds_end": null,
"cds_length": 656,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000450882.1",
"protein_id": "ENSP00000395305.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 193,
"cds_start": 176,
"cds_end": null,
"cds_length": 583,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "XM_005255041.3",
"protein_id": "XP_005255098.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 176,
"cds_end": null,
"cds_length": 771,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "XM_011522351.3",
"protein_id": "XP_011520653.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 176,
"cds_end": null,
"cds_length": 771,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 1538,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "n.183G>C",
"hgvs_p": null,
"transcript": "ENST00000461550.5",
"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": 1478,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"hgvs_c": "n.211G>C",
"hgvs_p": null,
"transcript": "ENST00000481453.5",
"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": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MRPL28",
"gene_hgnc_id": 14484,
"dbsnp": "rs149440376",
"frequency_reference_population": 0.00039734936,
"hom_count_reference_population": 0,
"allele_count_reference_population": 641,
"gnomad_exomes_af": 0.000390849,
"gnomad_genomes_af": 0.000459722,
"gnomad_exomes_ac": 571,
"gnomad_genomes_ac": 70,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016733884811401367,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.3401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.948,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000199706.13",
"gene_symbol": "MRPL28",
"hgnc_id": 14484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro"
}
],
"clinvar_disease": "Oromandibular-limb hypogenesis spectrum",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Oromandibular-limb hypogenesis spectrum",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}