← Back to variant description
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: 7-30753915-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30753915&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30753915,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006774.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT",
"gene_hgnc_id": 6069,
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Phe113Phe",
"transcript": "NM_006774.5",
"protein_id": "NP_006765.4",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 263,
"cds_start": 339,
"cds_end": null,
"cds_length": 792,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": "ENST00000013222.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT",
"gene_hgnc_id": 6069,
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Phe113Phe",
"transcript": "ENST00000013222.5",
"protein_id": "ENSP00000013222.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 263,
"cds_start": 339,
"cds_end": null,
"cds_length": 792,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": "NM_006774.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT",
"gene_hgnc_id": 6069,
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Phe112Phe",
"transcript": "ENST00000409539.1",
"protein_id": "ENSP00000386961.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 262,
"cds_start": 336,
"cds_end": null,
"cds_length": 789,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT-MINDY4",
"gene_hgnc_id": 41995,
"hgvs_c": "n.336C>T",
"hgvs_p": null,
"transcript": "ENST00000458257.5",
"protein_id": "ENSP00000456039.1",
"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": 2877,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT",
"gene_hgnc_id": 6069,
"hgvs_c": "n.485C>T",
"hgvs_p": null,
"transcript": "ENST00000484180.1",
"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": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT",
"gene_hgnc_id": 6069,
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Phe112Phe",
"transcript": "NM_001199219.2",
"protein_id": "NP_001186148.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 262,
"cds_start": 336,
"cds_end": null,
"cds_length": 789,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 2556,
"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": "INMT-MINDY4",
"gene_hgnc_id": 41995,
"hgvs_c": "n.336C>T",
"hgvs_p": null,
"transcript": "ENST00000451002.2",
"protein_id": "ENSP00000456833.2",
"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": 975,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INMT-MINDY4",
"gene_hgnc_id": 41995,
"hgvs_c": "n.352C>T",
"hgvs_p": null,
"transcript": "NR_037598.1",
"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": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INMT",
"gene_hgnc_id": 6069,
"dbsnp": "rs116690173",
"frequency_reference_population": 0.0011778249,
"hom_count_reference_population": 23,
"allele_count_reference_population": 1901,
"gnomad_exomes_af": 0.00068413,
"gnomad_genomes_af": 0.00591665,
"gnomad_exomes_ac": 1000,
"gnomad_genomes_ac": 901,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.282,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006774.5",
"gene_symbol": "INMT",
"hgnc_id": 6069,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.339C>T",
"hgvs_p": "p.Phe113Phe"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000458257.5",
"gene_symbol": "INMT-MINDY4",
"hgnc_id": 41995,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.336C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}