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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: 12-69958513-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69958513&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69958513,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_182530.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRFL",
"gene_hgnc_id": 26316,
"hgvs_c": "c.2715C>T",
"hgvs_p": "p.Phe905Phe",
"transcript": "NM_182530.3",
"protein_id": "NP_872336.2",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 910,
"cds_start": 2715,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000552032.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182530.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRFL",
"gene_hgnc_id": 26316,
"hgvs_c": "c.2715C>T",
"hgvs_p": "p.Phe905Phe",
"transcript": "ENST00000552032.7",
"protein_id": "ENSP00000448753.2",
"transcript_support_level": 5,
"aa_start": 905,
"aa_end": null,
"aa_length": 910,
"cds_start": 2715,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182530.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552032.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRFL",
"gene_hgnc_id": 26316,
"hgvs_c": "c.2640C>T",
"hgvs_p": "p.Phe880Phe",
"transcript": "ENST00000535034.6",
"protein_id": "ENSP00000440626.2",
"transcript_support_level": 1,
"aa_start": 880,
"aa_end": null,
"aa_length": 885,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535034.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRFL",
"gene_hgnc_id": 26316,
"hgvs_c": "c.2679C>T",
"hgvs_p": "p.Phe893Phe",
"transcript": "ENST00000547771.6",
"protein_id": "ENSP00000449598.2",
"transcript_support_level": 5,
"aa_start": 893,
"aa_end": null,
"aa_length": 898,
"cds_start": 2679,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547771.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRFL",
"gene_hgnc_id": 26316,
"hgvs_c": "c.735C>T",
"hgvs_p": "p.Phe245Phe",
"transcript": "ENST00000299350.5",
"protein_id": "ENSP00000299350.5",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 250,
"cds_start": 735,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299350.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRANCR",
"gene_hgnc_id": 51126,
"hgvs_c": "n.153-54094G>A",
"hgvs_p": null,
"transcript": "ENST00000549419.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549419.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRANCR",
"gene_hgnc_id": 51126,
"hgvs_c": "n.370-54094G>A",
"hgvs_p": null,
"transcript": "ENST00000668518.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668518.1"
}
],
"gene_symbol": "MYRFL",
"gene_hgnc_id": 26316,
"dbsnp": "rs200704226",
"frequency_reference_population": 0.00067827664,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1041,
"gnomad_exomes_af": 0.000671782,
"gnomad_genomes_af": 0.000737415,
"gnomad_exomes_ac": 929,
"gnomad_genomes_ac": 112,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07699999958276749,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.777,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_182530.3",
"gene_symbol": "MYRFL",
"hgnc_id": 26316,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2715C>T",
"hgvs_p": "p.Phe905Phe"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000549419.6",
"gene_symbol": "PRANCR",
"hgnc_id": 51126,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.153-54094G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}