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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: 4-83470315-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=83470315&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 83470315,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000321945.12",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Gln122*",
"transcript": "NM_139076.3",
"protein_id": "NP_620775.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 409,
"cds_start": 364,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "ENST00000321945.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Gln122*",
"transcript": "ENST00000321945.12",
"protein_id": "ENSP00000369857.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 409,
"cds_start": 364,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": "NM_139076.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Gln7*",
"transcript": "ENST00000611288.4",
"protein_id": "ENSP00000482434.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 198,
"cds_start": 19,
"cds_end": null,
"cds_length": 597,
"cdna_start": 19,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Gln73*",
"transcript": "ENST00000506553.5",
"protein_id": "ENSP00000426763.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 360,
"cds_start": 217,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.37C>T",
"hgvs_p": "p.Gln13*",
"transcript": "NM_001345962.2",
"protein_id": "NP_001332891.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 300,
"cds_start": 37,
"cds_end": null,
"cds_length": 903,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Gln115*",
"transcript": "ENST00000505489.5",
"protein_id": "ENSP00000480277.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 219,
"cds_start": 343,
"cds_end": null,
"cds_length": 660,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Gln176*",
"transcript": "ENST00000503217.2",
"protein_id": "ENSP00000481099.1",
"transcript_support_level": 4,
"aa_start": 176,
"aa_end": null,
"aa_length": 188,
"cds_start": 526,
"cds_end": null,
"cds_length": 567,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 595,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*72C>T",
"hgvs_p": null,
"transcript": "ENST00000475656.6",
"protein_id": "ENSP00000426080.1",
"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": 2718,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*425C>T",
"hgvs_p": null,
"transcript": "ENST00000511801.1",
"protein_id": "ENSP00000421876.2",
"transcript_support_level": 3,
"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": 682,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"transcript": "XR_001741334.3",
"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": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*72C>T",
"hgvs_p": null,
"transcript": "ENST00000475656.6",
"protein_id": "ENSP00000426080.1",
"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": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"hgvs_c": "n.*425C>T",
"hgvs_p": null,
"transcript": "ENST00000511801.1",
"protein_id": "ENSP00000421876.2",
"transcript_support_level": 3,
"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": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABRAXAS1",
"gene_hgnc_id": 25829,
"dbsnp": "rs137876115",
"frequency_reference_population": 0.000050814582,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000533682,
"gnomad_genomes_af": 0.0000262871,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.455,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": "ENST00000321945.12",
"gene_symbol": "ABRAXAS1",
"hgnc_id": 25829,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Gln122*"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}