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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: 20-2795688-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2795688&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 2795688,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019609.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "NM_019609.5",
"protein_id": "NP_062555.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 734,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019609.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "ENST00000380605.3",
"protein_id": "ENSP00000369979.2",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 734,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019609.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380605.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg",
"transcript": "ENST00000921882.1",
"protein_id": "ENSP00000591941.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 734,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921882.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1622A>G",
"hgvs_p": "p.Gln541Arg",
"transcript": "ENST00000867057.1",
"protein_id": "ENSP00000537116.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 731,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867057.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1604A>G",
"hgvs_p": "p.Gln535Arg",
"transcript": "ENST00000921883.1",
"protein_id": "ENSP00000591942.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 725,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921883.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1475A>G",
"hgvs_p": "p.Gln492Arg",
"transcript": "ENST00000921884.1",
"protein_id": "ENSP00000591943.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 682,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921884.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Gln437Arg",
"transcript": "ENST00000948848.1",
"protein_id": "ENSP00000618907.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 627,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948848.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1498+133A>G",
"hgvs_p": null,
"transcript": "NM_001184699.2",
"protein_id": "NP_001171628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": null,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184699.2"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"hgvs_c": "c.1498+133A>G",
"hgvs_p": null,
"transcript": "ENST00000867058.1",
"protein_id": "ENSP00000537117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": null,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867058.1"
}
],
"gene_symbol": "CPXM1",
"gene_hgnc_id": 15771,
"dbsnp": "rs201409887",
"frequency_reference_population": 0.00015489564,
"hom_count_reference_population": 0,
"allele_count_reference_population": 250,
"gnomad_exomes_af": 0.000152562,
"gnomad_genomes_af": 0.000177291,
"gnomad_exomes_ac": 223,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02102145552635193,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.941,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_019609.5",
"gene_symbol": "CPXM1",
"hgnc_id": 15771,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.Gln544Arg"
}
],
"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
}