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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: 5-163482710-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=163482710&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 163482710,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393915.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1454C>A",
"hgvs_p": "p.Ala485Glu",
"transcript": "NM_001142556.2",
"protein_id": "NP_001136028.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 725,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": "ENST00000393915.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1454C>A",
"hgvs_p": "p.Ala485Glu",
"transcript": "ENST00000393915.9",
"protein_id": "ENSP00000377492.4",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 725,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": "NM_001142556.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1451C>A",
"hgvs_p": "p.Ala484Glu",
"transcript": "ENST00000358715.3",
"protein_id": "ENSP00000351554.3",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 724,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1406C>A",
"hgvs_p": "p.Ala469Glu",
"transcript": "ENST00000353866.7",
"protein_id": "ENSP00000185942.6",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 709,
"cds_start": 1406,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1451C>A",
"hgvs_p": "p.Ala484Glu",
"transcript": "NM_012484.3",
"protein_id": "NP_036616.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 724,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1406C>A",
"hgvs_p": "p.Ala469Glu",
"transcript": "NM_012485.3",
"protein_id": "NP_036617.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 709,
"cds_start": 1406,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1193C>A",
"hgvs_p": "p.Ala398Glu",
"transcript": "NM_001142557.2",
"protein_id": "NP_001136029.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 638,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"hgvs_c": "c.1193C>A",
"hgvs_p": "p.Ala398Glu",
"transcript": "ENST00000432118.6",
"protein_id": "ENSP00000402673.2",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 638,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2084,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMMR-AS1",
"gene_hgnc_id": 49149,
"hgvs_c": "n.1163G>T",
"hgvs_p": null,
"transcript": "NR_109892.1",
"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": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HMMR",
"gene_hgnc_id": 5012,
"dbsnp": "rs299295",
"frequency_reference_population": 6.84608e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84608e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0646807849407196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.299,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393915.9",
"gene_symbol": "HMMR",
"hgnc_id": 5012,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1454C>A",
"hgvs_p": "p.Ala485Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_109892.1",
"gene_symbol": "HMMR-AS1",
"hgnc_id": 49149,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1163G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}