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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: 7-121015705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=121015705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 121015705,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024913.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "NM_024913.5",
"protein_id": "NP_079189.4",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1026,
"cds_start": 290,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310396.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024913.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000310396.10",
"protein_id": "ENSP00000309772.5",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 1026,
"cds_start": 290,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024913.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310396.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000450913.6",
"protein_id": "ENSP00000406122.2",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 783,
"cds_start": 290,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450913.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "n.737G>A",
"hgvs_p": null,
"transcript": "ENST00000495036.5",
"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": "ENST00000495036.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000942586.1",
"protein_id": "ENSP00000612645.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 1026,
"cds_start": 290,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942586.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000942583.1",
"protein_id": "ENSP00000612642.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 992,
"cds_start": 290,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942583.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000942584.1",
"protein_id": "ENSP00000612643.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 991,
"cds_start": 290,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942584.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000942582.1",
"protein_id": "ENSP00000612641.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 977,
"cds_start": 290,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942582.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000942585.1",
"protein_id": "ENSP00000612644.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 889,
"cds_start": 290,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942585.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "NM_001105533.1",
"protein_id": "NP_001099003.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 783,
"cds_start": 290,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105533.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000428526.5",
"protein_id": "ENSP00000398082.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 548,
"cds_start": 290,
"cds_end": null,
"cds_length": 1648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428526.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "ENST00000340646.9",
"protein_id": "ENSP00000345235.5",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 202,
"cds_start": 290,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340646.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "XM_047420856.1",
"protein_id": "XP_047276812.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 783,
"cds_start": 290,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420856.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"transcript": "XM_047420857.1",
"protein_id": "XP_047276813.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 776,
"cds_start": 290,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420857.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "c.-81+25835G>A",
"hgvs_p": null,
"transcript": "XM_024446941.2",
"protein_id": "XP_024302709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 855,
"cds_start": null,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446941.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "n.*70+21624G>A",
"hgvs_p": null,
"transcript": "ENST00000520801.5",
"protein_id": "ENSP00000428504.1",
"transcript_support_level": 4,
"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": "ENST00000520801.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"hgvs_c": "n.-39G>A",
"hgvs_p": null,
"transcript": "ENST00000521774.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000521774.1"
}
],
"gene_symbol": "CPED1",
"gene_hgnc_id": 26159,
"dbsnp": "rs201993865",
"frequency_reference_population": 0.00013040136,
"hom_count_reference_population": 0,
"allele_count_reference_population": 209,
"gnomad_exomes_af": 0.000133757,
"gnomad_genomes_af": 0.0000984575,
"gnomad_exomes_ac": 194,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21100956201553345,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.1266,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.909,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024913.5",
"gene_symbol": "CPED1",
"hgnc_id": 26159,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln"
}
],
"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
}