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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: 8-23432952-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=23432952&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 23432952,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004901.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "NM_004901.5",
"protein_id": "NP_004892.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 616,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358689.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004901.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000358689.9",
"protein_id": "ENSP00000351520.4",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 616,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004901.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358689.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Ala601Thr",
"transcript": "ENST00000417069.6",
"protein_id": "ENSP00000408573.2",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 608,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417069.6"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1598+1365G>A",
"hgvs_p": null,
"transcript": "ENST00000356206.10",
"protein_id": "ENSP00000348536.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356206.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Ala615Thr",
"transcript": "ENST00000854257.1",
"protein_id": "ENSP00000524316.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 622,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854257.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000912388.1",
"protein_id": "ENSP00000582447.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 616,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912388.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000912389.1",
"protein_id": "ENSP00000582448.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 616,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912389.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000961346.1",
"protein_id": "ENSP00000631405.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 616,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961346.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Ala606Thr",
"transcript": "ENST00000854258.1",
"protein_id": "ENSP00000524317.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 613,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854258.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Ala601Thr",
"transcript": "NM_001128930.3",
"protein_id": "NP_001122402.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 608,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128930.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Ala601Thr",
"transcript": "ENST00000912387.1",
"protein_id": "ENSP00000582446.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 608,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912387.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1801G>A",
"hgvs_p": "p.Ala601Thr",
"transcript": "ENST00000961348.1",
"protein_id": "ENSP00000631407.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 608,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961348.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1765G>A",
"hgvs_p": "p.Ala589Thr",
"transcript": "ENST00000912386.1",
"protein_id": "ENSP00000582445.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 596,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912386.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Ala581Thr",
"transcript": "ENST00000961347.1",
"protein_id": "ENSP00000631406.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 588,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961347.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "c.407+1365G>A",
"hgvs_p": null,
"transcript": "ENST00000518471.5",
"protein_id": "ENSP00000430579.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518471.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "n.625G>A",
"hgvs_p": null,
"transcript": "ENST00000522255.1",
"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": "retained_intron",
"feature": "ENST00000522255.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"hgvs_c": "n.292+1365G>A",
"hgvs_p": null,
"transcript": "ENST00000521321.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000521321.5"
}
],
"gene_symbol": "ENTPD4",
"gene_hgnc_id": 14573,
"dbsnp": "rs570420189",
"frequency_reference_population": 0.000052837433,
"hom_count_reference_population": 0,
"allele_count_reference_population": 85,
"gnomad_exomes_af": 0.0000473775,
"gnomad_genomes_af": 0.000105041,
"gnomad_exomes_ac": 69,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011351913213729858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.084,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004901.5",
"gene_symbol": "ENTPD4",
"hgnc_id": 14573,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}