← 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: 9-71745180-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71745180&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 71745180,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013390.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "NM_013390.3",
"protein_id": "NP_037522.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1383,
"cds_start": 872,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377044.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013390.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "ENST00000377044.9",
"protein_id": "ENSP00000366243.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 1383,
"cds_start": 872,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013390.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377044.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "ENST00000377066.9",
"protein_id": "ENSP00000366266.5",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 1320,
"cds_start": 872,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377066.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "n.872G>T",
"hgvs_p": null,
"transcript": "ENST00000542935.5",
"protein_id": "ENSP00000437750.1",
"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": "ENST00000542935.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "ENST00000971297.1",
"protein_id": "ENSP00000641356.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1389,
"cds_start": 872,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971297.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "ENST00000853336.1",
"protein_id": "ENSP00000523395.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1383,
"cds_start": 872,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853336.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "NM_001135820.2",
"protein_id": "NP_001129292.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1320,
"cds_start": 872,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135820.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "ENST00000911423.1",
"protein_id": "ENSP00000581482.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1320,
"cds_start": 872,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911423.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "ENST00000853337.1",
"protein_id": "ENSP00000523396.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1069,
"cds_start": 872,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853337.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "XM_005251869.5",
"protein_id": "XP_005251926.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1383,
"cds_start": 872,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251869.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu",
"transcript": "XM_047423136.1",
"protein_id": "XP_047279092.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 1320,
"cds_start": 872,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423136.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.233G>T",
"hgvs_p": "p.Arg78Leu",
"transcript": "XM_047423137.1",
"protein_id": "XP_047279093.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1170,
"cds_start": 233,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.-1009G>T",
"hgvs_p": null,
"transcript": "NM_001349784.2",
"protein_id": "NP_001336713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": null,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349784.2"
}
],
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"dbsnp": "rs25689",
"frequency_reference_population": 0.0000012393417,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84062e-7,
"gnomad_genomes_af": 0.00000658311,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11024996638298035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.1048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.938,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013390.3",
"gene_symbol": "CEMIP2",
"hgnc_id": 11869,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.872G>T",
"hgvs_p": "p.Arg291Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}