← Back to variant description
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: 16-28894953-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28894953&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28894953,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_173201.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser",
"transcript": "NM_004320.6",
"protein_id": "NP_004311.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 994,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395503.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004320.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser",
"transcript": "ENST00000395503.9",
"protein_id": "ENSP00000378879.5",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 994,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004320.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395503.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser",
"transcript": "ENST00000971328.1",
"protein_id": "ENSP00000641387.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1419,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971328.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser",
"transcript": "NM_173201.5",
"protein_id": "NP_775293.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 1001,
"cds_start": 1419,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173201.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser",
"transcript": "ENST00000357084.7",
"protein_id": "ENSP00000349595.3",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 1001,
"cds_start": 1419,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357084.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser",
"transcript": "ENST00000971325.1",
"protein_id": "ENSP00000641384.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 994,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971325.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Ser467Ser",
"transcript": "ENST00000971329.1",
"protein_id": "ENSP00000641388.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 988,
"cds_start": 1401,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971329.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1338G>A",
"hgvs_p": "p.Ser446Ser",
"transcript": "ENST00000971326.1",
"protein_id": "ENSP00000641385.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 967,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971326.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1320G>A",
"hgvs_p": "p.Ser440Ser",
"transcript": "ENST00000971327.1",
"protein_id": "ENSP00000641386.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 961,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971327.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Ser348Ser",
"transcript": "NM_001286075.2",
"protein_id": "NP_001273004.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 869,
"cds_start": 1044,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286075.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Ser348Ser",
"transcript": "ENST00000536376.5",
"protein_id": "ENSP00000443101.1",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 869,
"cds_start": 1044,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "n.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000564732.1",
"protein_id": "ENSP00000457357.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000564732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"hgvs_c": "n.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000564732.1",
"protein_id": "ENSP00000457357.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000564732.1"
}
],
"gene_symbol": "ATP2A1",
"gene_hgnc_id": 811,
"dbsnp": "rs749463179",
"frequency_reference_population": 0.000009931374,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000822549,
"gnomad_genomes_af": 0.0000262854,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9399999976158142,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.122,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.45,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999709982926958,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173201.5",
"gene_symbol": "ATP2A1",
"hgnc_id": 811,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ser473Ser"
}
],
"clinvar_disease": "Brody myopathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Brody myopathy|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}