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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: 8-98123484-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=98123484&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 98123484,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_015029.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "NM_001145860.2",
"protein_id": "NP_001139332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401707.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145860.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000401707.7",
"protein_id": "ENSP00000385787.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145860.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401707.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000349693.3",
"protein_id": "ENSP00000339529.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349693.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000916453.1",
"protein_id": "ENSP00000586512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1030,
"cds_start": null,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "NM_001145861.2",
"protein_id": "NP_001139333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145861.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "NM_015029.3",
"protein_id": "NP_055844.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015029.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000884875.1",
"protein_id": "ENSP00000554934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000884876.1",
"protein_id": "ENSP00000554935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000916451.1",
"protein_id": "ENSP00000586510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000884877.1",
"protein_id": "ENSP00000554936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884877.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.112+35A>G",
"hgvs_p": null,
"transcript": "ENST00000916452.1",
"protein_id": "ENSP00000586511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "ENST00000522319.5",
"protein_id": "ENSP00000428945.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"hgvs_c": "c.142+5A>G",
"hgvs_p": null,
"transcript": "XM_011516801.3",
"protein_id": "XP_011515103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": null,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516801.3"
}
],
"gene_symbol": "POP1",
"gene_hgnc_id": 30129,
"dbsnp": "rs373776571",
"frequency_reference_population": 0.00004835314,
"hom_count_reference_population": 1,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.00002259,
"gnomad_genomes_af": 0.00029545,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.04800000041723251,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.022,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000312261234680956,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_015029.3",
"gene_symbol": "POP1",
"hgnc_id": 30129,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.142+5A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}