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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: 11-9295280-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9295280&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9295280,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015012.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "NM_015012.4",
"protein_id": "NP_055827.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000528080.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015012.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000528080.6",
"protein_id": "ENSP00000433126.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015012.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528080.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000611268.4",
"protein_id": "ENSP00000480141.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 291,
"cds_start": 347,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611268.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "n.347C>T",
"hgvs_p": null,
"transcript": "ENST00000299596.8",
"protein_id": "ENSP00000299596.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000299596.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000931713.1",
"protein_id": "ENSP00000601772.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 347,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931713.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000527813.5",
"protein_id": "ENSP00000435685.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 196,
"cds_start": 347,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527813.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "NM_001165030.3",
"protein_id": "NP_001158502.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 127,
"cds_start": 347,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165030.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000533723.1",
"protein_id": "ENSP00000436480.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 127,
"cds_start": 347,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533723.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "XM_047426969.1",
"protein_id": "XP_047282925.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 192,
"cds_start": 347,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "c.336+11C>T",
"hgvs_p": null,
"transcript": "ENST00000931712.1",
"protein_id": "ENSP00000601771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "n.347C>T",
"hgvs_p": null,
"transcript": "ENST00000524543.5",
"protein_id": "ENSP00000431934.1",
"transcript_support_level": 2,
"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": "ENST00000524543.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"hgvs_c": "n.499C>T",
"hgvs_p": null,
"transcript": "NR_028491.3",
"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_028491.3"
}
],
"gene_symbol": "TMEM41B",
"gene_hgnc_id": 28948,
"dbsnp": "rs138570403",
"frequency_reference_population": 0.0000349895,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000147912,
"gnomad_genomes_af": 0.000223484,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 34,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44699397683143616,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8551,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.947,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_015012.4",
"gene_symbol": "TMEM41B",
"hgnc_id": 28948,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}