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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: 5-53107172-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=53107172&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 53107172,
"ref": "C",
"alt": "G",
"effect": "start_lost",
"transcript": "ENST00000396954.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_004531.5",
"protein_id": "NP_004522.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 188,
"cds_start": 3,
"cds_end": null,
"cds_length": 567,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": "ENST00000396954.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000396954.8",
"protein_id": "ENSP00000380157.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 188,
"cds_start": 3,
"cds_end": null,
"cds_length": 567,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": "NM_004531.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "NM_176806.4",
"protein_id": "NP_789776.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": "ENST00000450852.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000450852.8",
"protein_id": "ENSP00000411022.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": "NM_176806.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000361377.8",
"protein_id": "ENSP00000355160.4",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000508922.5",
"protein_id": "ENSP00000426274.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000510818.6",
"protein_id": "ENSP00000424267.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000582677.5",
"protein_id": "ENSP00000462870.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Val64Leu",
"transcript": "ENST00000584946.5",
"protein_id": "ENSP00000464663.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 88,
"cds_start": 190,
"cds_end": null,
"cds_length": 267,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Val59Leu",
"transcript": "ENST00000527216.5",
"protein_id": "ENSP00000435326.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 83,
"cds_start": 175,
"cds_end": null,
"cds_length": 252,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 707,
"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": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "n.926G>C",
"hgvs_p": null,
"transcript": "ENST00000502402.5",
"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": 2849,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"hgvs_c": "n.188G>C",
"hgvs_p": null,
"transcript": "ENST00000514553.2",
"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": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MOCS2",
"gene_hgnc_id": 7193,
"dbsnp": "rs121908606",
"frequency_reference_population": 0.000001368137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136814,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9641456604003906,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.568,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000396954.8",
"gene_symbol": "MOCS2",
"hgnc_id": 7193,
"effects": [
"start_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}