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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: 8-103140937-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=103140937&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 103140937,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364874.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "NM_024812.3",
"protein_id": "NP_079088.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 145,
"cds_start": 40,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309982.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024812.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "ENST00000309982.10",
"protein_id": "ENSP00000312457.5",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 145,
"cds_start": 40,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024812.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309982.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "ENST00000438105.2",
"protein_id": "ENSP00000395024.2",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 54,
"cds_start": 40,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438105.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAALC-AS2",
"gene_hgnc_id": 28595,
"hgvs_c": "n.286+317G>A",
"hgvs_p": null,
"transcript": "ENST00000436771.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000436771.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAALC-AS2",
"gene_hgnc_id": 28595,
"hgvs_c": "n.157+522G>A",
"hgvs_p": null,
"transcript": "ENST00000521246.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000521246.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "NM_001364874.1",
"protein_id": "NP_001351803.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 180,
"cds_start": 40,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364874.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "ENST00000297574.6",
"protein_id": "ENSP00000297574.6",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 180,
"cds_start": 40,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297574.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "ENST00000964302.1",
"protein_id": "ENSP00000634361.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 145,
"cds_start": 40,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964302.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "ENST00000306391.10",
"protein_id": "ENSP00000302559.6",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 80,
"cds_start": 40,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306391.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "ENST00000330955.5",
"protein_id": "ENSP00000331579.5",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 73,
"cds_start": 40,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330955.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys",
"transcript": "NM_001024372.2",
"protein_id": "NP_001019543.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 54,
"cds_start": 40,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024372.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAALC-AS2",
"gene_hgnc_id": 28595,
"hgvs_c": "n.164+317G>A",
"hgvs_p": null,
"transcript": "ENST00000702182.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000702182.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAALC-AS2",
"gene_hgnc_id": 28595,
"hgvs_c": "n.89+317G>A",
"hgvs_p": null,
"transcript": "NR_027071.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_027071.1"
}
],
"gene_symbol": "BAALC",
"gene_hgnc_id": 14333,
"dbsnp": "rs866254829",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.601780354976654,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.325,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.335,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364874.1",
"gene_symbol": "BAALC",
"hgnc_id": 14333,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.40C>T",
"hgvs_p": "p.Arg14Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000436771.4",
"gene_symbol": "BAALC-AS2",
"hgnc_id": 28595,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.286+317G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}