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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: 14-102928825-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102928825&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 102928825,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000299155.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Gly121Gly",
"transcript": "NM_030943.4",
"protein_id": "NP_112205.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 453,
"cds_start": 363,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": "ENST00000299155.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Gly121Gly",
"transcript": "ENST00000299155.10",
"protein_id": "ENSP00000299155.6",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 453,
"cds_start": 363,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": "NM_030943.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gly67Gly",
"transcript": "NM_001425246.1",
"protein_id": "NP_001412175.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 399,
"cds_start": 201,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.15G>A",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000559525.1",
"protein_id": "ENSP00000453786.1",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 105,
"cds_start": 15,
"cds_end": null,
"cds_length": 318,
"cdna_start": 17,
"cdna_end": null,
"cdna_length": 320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Gly67Gly",
"transcript": "XM_011537203.4",
"protein_id": "XP_011535505.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 399,
"cds_start": 201,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1942,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "n.1109G>A",
"hgvs_p": null,
"transcript": "ENST00000541086.5",
"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": 2269,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "n.181G>A",
"hgvs_p": null,
"transcript": "ENST00000558590.1",
"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": 2772,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "n.134G>A",
"hgvs_p": null,
"transcript": "ENST00000559442.1",
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"hgvs_c": "c.-7G>A",
"hgvs_p": null,
"transcript": "ENST00000559789.1",
"protein_id": "ENSP00000452831.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AMN",
"gene_hgnc_id": 14604,
"dbsnp": "rs141455061",
"frequency_reference_population": 0.0054645487,
"hom_count_reference_population": 64,
"allele_count_reference_population": 8782,
"gnomad_exomes_af": 0.00542157,
"gnomad_genomes_af": 0.00587502,
"gnomad_exomes_ac": 7887,
"gnomad_genomes_ac": 895,
"gnomad_exomes_homalt": 57,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.823,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000299155.10",
"gene_symbol": "AMN",
"hgnc_id": 14604,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.363G>A",
"hgvs_p": "p.Gly121Gly"
}
],
"clinvar_disease": "Imerslund-Grasbeck syndrome,Imerslund-Grasbeck syndrome type 2,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Imerslund-Grasbeck syndrome|Imerslund-Grasbeck syndrome type 2|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}