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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: 12-95987154-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95987154&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95987154,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000261208.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322*",
"transcript": "NM_002108.4",
"protein_id": "NP_002099.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 657,
"cds_start": 964,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": "ENST00000261208.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322*",
"transcript": "ENST00000261208.8",
"protein_id": "ENSP00000261208.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 657,
"cds_start": 964,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": "NM_002108.4",
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000546999.5",
"protein_id": "ENSP00000447675.1",
"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": 2271,
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000546999.5",
"protein_id": "ENSP00000447675.1",
"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": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322*",
"transcript": "NM_001258334.2",
"protein_id": "NP_001245263.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 591,
"cds_start": 964,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322*",
"transcript": "ENST00000538703.5",
"protein_id": "ENSP00000440861.1",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 591,
"cds_start": 964,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114*",
"transcript": "NM_001258333.2",
"protein_id": "NP_001245262.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 449,
"cds_start": 340,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114*",
"transcript": "ENST00000541929.5",
"protein_id": "ENSP00000446364.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 449,
"cds_start": 340,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310*",
"transcript": "ENST00000552509.5",
"protein_id": "ENSP00000450372.1",
"transcript_support_level": 3,
"aa_start": 310,
"aa_end": null,
"aa_length": 335,
"cds_start": 928,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.112C>T",
"hgvs_p": "p.Arg38*",
"transcript": "XM_011538249.3",
"protein_id": "XP_011536551.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 373,
"cds_start": 112,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12*",
"transcript": "XM_017019246.1",
"protein_id": "XP_016874735.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 347,
"cds_start": 34,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3234,
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000544080.6",
"protein_id": "ENSP00000439385.2",
"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": 2804,
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"hgvs_c": "n.*393C>T",
"hgvs_p": null,
"transcript": "ENST00000544080.6",
"protein_id": "ENSP00000439385.2",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HAL",
"gene_hgnc_id": 4806,
"dbsnp": "rs34457757",
"frequency_reference_population": 0.00053305435,
"hom_count_reference_population": 5,
"allele_count_reference_population": 860,
"gnomad_exomes_af": 0.000306638,
"gnomad_genomes_af": 0.00270448,
"gnomad_exomes_ac": 448,
"gnomad_genomes_ac": 412,
"gnomad_exomes_homalt": 5,
"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,
"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": 2.195,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261208.8",
"gene_symbol": "HAL",
"hgnc_id": 4806,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Arg322*"
}
],
"clinvar_disease": "Increased histidine",
"clinvar_classification": "association",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Increased histidine",
"pathogenicity_classification_combined": "association",
"custom_annotations": null
}
],
"message": null
}