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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: 1-146019625-G-GCCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=146019625&ref=G&alt=GCCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 146019625,
"ref": "G",
"alt": "GCCT",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000336751.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.204_206dupAGG",
"hgvs_p": "p.Gly69dup",
"transcript": "NM_213653.4",
"protein_id": "NP_998818.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 426,
"cds_start": 206,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": "ENST00000336751.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.204_206dupAGG",
"hgvs_p": "p.Gly69dup",
"transcript": "ENST00000336751.11",
"protein_id": "ENSP00000337014.5",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 426,
"cds_start": 206,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": "NM_213653.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-136_-134dupAGG",
"hgvs_p": null,
"transcript": "ENST00000357836.5",
"protein_id": "ENSP00000350495.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-22+70_-22+72dupAGG",
"hgvs_p": null,
"transcript": "ENST00000497365.5",
"protein_id": "ENSP00000421820.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.204_206dupAGG",
"hgvs_p": "p.Gly69dup",
"transcript": "NM_001379352.1",
"protein_id": "NP_001366281.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 426,
"cds_start": 206,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.204_206dupAGG",
"hgvs_p": "p.Gly69dup",
"transcript": "ENST00000421822.2",
"protein_id": "ENSP00000411863.2",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 92,
"cds_start": 206,
"cds_end": null,
"cds_length": 280,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-136_-134dupAGG",
"hgvs_p": null,
"transcript": "NM_145277.5",
"protein_id": "NP_660320.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-22+70_-22+72dupAGG",
"hgvs_p": null,
"transcript": "NM_001316767.2",
"protein_id": "NP_001303696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-22+70_-22+72dupAGG",
"hgvs_p": null,
"transcript": "NM_202004.4",
"protein_id": "NP_973733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-21-928_-21-926dupAGG",
"hgvs_p": null,
"transcript": "NM_213652.4",
"protein_id": "NP_998817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-21-928_-21-926dupAGG",
"hgvs_p": null,
"transcript": "ENST00000475797.1",
"protein_id": "ENSP00000425716.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.-22+70_-22+72dupAGG",
"hgvs_p": null,
"transcript": "ENST00000636675.1",
"protein_id": "ENSP00000490072.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"hgvs_c": "c.134+70_134+72dupAGG",
"hgvs_p": null,
"transcript": "ENST00000634927.1",
"protein_id": "ENSP00000489347.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": -4,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HJV",
"gene_hgnc_id": 4887,
"dbsnp": "rs587644102",
"frequency_reference_population": 0.0010665129,
"hom_count_reference_population": 5,
"allele_count_reference_population": 1716,
"gnomad_exomes_af": 0.000805108,
"gnomad_genomes_af": 0.00357157,
"gnomad_exomes_ac": 1173,
"gnomad_genomes_ac": 543,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.144,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000336751.11",
"gene_symbol": "HJV",
"hgnc_id": 4887,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.204_206dupAGG",
"hgvs_p": "p.Gly69dup"
}
],
"clinvar_disease": "HJV-related disorder,Hemochromatosis type 2A,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Hemochromatosis type 2A|not provided|HJV-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}