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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: 17-47975918-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47975918&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDK5RAP3",
"hgnc_id": 18673,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Asn260Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001278197.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000263798",
"hgnc_id": null,
"hgvs_c": "n.1603A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000641877.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.3822,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.49170222878456116,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 506,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1521,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_176096.3",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Asn235Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338399.9",
"protein_coding": true,
"protein_id": "NP_788276.1",
"strand": true,
"transcript": "NM_176096.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 506,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1521,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000338399.9",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Asn235Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_176096.3",
"protein_coding": true,
"protein_id": "ENSP00000344683.4",
"strand": true,
"transcript": "ENST00000338399.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000580287.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.1648A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000580287.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000584063.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.1671A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000584063.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000585163.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.1435A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000585163.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "N",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1596,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001278197.2",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Asn260Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265126.1",
"strand": true,
"transcript": "NM_001278197.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "N",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1596,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000536708.6",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Asn260Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438886.2",
"strand": true,
"transcript": "ENST00000536708.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 503,
"aa_ref": "N",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1512,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894559.1",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Asn232Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564618.1",
"strand": true,
"transcript": "ENST00000894559.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 503,
"aa_ref": "N",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1512,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894560.1",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Asn232Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564619.1",
"strand": true,
"transcript": "ENST00000894560.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 479,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1440,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930755.1",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.703A>G",
"hgvs_p": "p.Asn235Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600814.1",
"strand": true,
"transcript": "ENST00000930755.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 419,
"aa_ref": "N",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1260,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001278217.2",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Asn148Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265146.1",
"strand": true,
"transcript": "NM_001278217.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 316,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 951,
"cds_start": 28,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001278198.2",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.28A>G",
"hgvs_p": "p.Asn10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265127.1",
"strand": true,
"transcript": "NM_001278198.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 281,
"aa_ref": "N",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 846,
"cds_start": 28,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001278216.2",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.28A>G",
"hgvs_p": "p.Asn10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265145.1",
"strand": true,
"transcript": "NM_001278216.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 280,
"aa_ref": "N",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": 712,
"cds_end": null,
"cds_length": 843,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000579175.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Asn230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463950.1",
"strand": true,
"transcript": "ENST00000579175.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "N",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1596,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011525297.1",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Asn260Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523599.1",
"strand": true,
"transcript": "XM_011525297.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 413,
"aa_ref": "N",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1242,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017025166.3",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Asn142Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880655.1",
"strand": true,
"transcript": "XM_017025166.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000580391.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.*389A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463878.1",
"strand": true,
"transcript": "ENST00000580391.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000580670.6",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.*389A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463442.2",
"strand": true,
"transcript": "ENST00000580670.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000584168.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.1626A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000584168.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000584991.5",
"gene_hgnc_id": 18673,
"gene_symbol": "CDK5RAP3",
"hgvs_c": "n.*389A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462012.1",
"strand": true,
"transcript": "ENST00000584991.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": null,
"cds_end": null,
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]
}