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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: 12-94403179-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=94403179&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CEP83",
"hgnc_id": 17966,
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_016122.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 16225,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "12",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Nephronophthisis 18,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 873,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_016122.3",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397809.10",
"protein_coding": true,
"protein_id": "NP_057206.2",
"strand": false,
"transcript": "NM_016122.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 873,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397809.10",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016122.3",
"protein_coding": true,
"protein_id": "ENSP00000380911.4",
"strand": false,
"transcript": "ENST00000397809.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 899,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339839.9",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344655.5",
"strand": false,
"transcript": "ENST00000339839.9",
"transcript_support_level": 1
},
{
"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": 2166,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547232.5",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "n.309T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447783.1",
"strand": false,
"transcript": "ENST00000547232.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 861,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000549352.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "n.252T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000549352.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 820,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001042399.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035858.1",
"strand": false,
"transcript": "NM_001042399.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 820,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346457.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333386.1",
"strand": false,
"transcript": "NM_001346457.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 817,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001368037.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354966.1",
"strand": false,
"transcript": "NM_001368037.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 764,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001368038.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354967.1",
"strand": false,
"transcript": "NM_001368038.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 681,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 923,
"cds_end": null,
"cds_length": 2046,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914421.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584480.1",
"strand": false,
"transcript": "ENST00000914421.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 605,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1818,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000914423.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584482.1",
"strand": false,
"transcript": "ENST00000914423.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 597,
"aa_ref": "N",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1794,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001346458.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.96T>C",
"hgvs_p": "p.Asn32Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333387.1",
"strand": false,
"transcript": "NM_001346458.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 597,
"aa_ref": "N",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1794,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346459.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.96T>C",
"hgvs_p": "p.Asn32Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333388.1",
"strand": false,
"transcript": "NM_001346459.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 597,
"aa_ref": "N",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1794,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001368039.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.96T>C",
"hgvs_p": "p.Asn32Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354968.1",
"strand": false,
"transcript": "NM_001368039.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 597,
"aa_ref": "N",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 565,
"cds_end": null,
"cds_length": 1794,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001368040.1",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.96T>C",
"hgvs_p": "p.Asn32Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354969.1",
"strand": false,
"transcript": "NM_001368040.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1059,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001346460.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333389.1",
"strand": false,
"transcript": "NM_001346460.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1059,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346461.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333390.1",
"strand": false,
"transcript": "NM_001346461.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1059,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000547575.5",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448913.1",
"strand": false,
"transcript": "ENST00000547575.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 248,
"aa_ref": "N",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 621,
"cds_end": null,
"cds_length": 747,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001346462.2",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.96T>C",
"hgvs_p": "p.Asn32Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333391.1",
"strand": false,
"transcript": "NM_001346462.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 924,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011538424.3",
"gene_hgnc_id": 17966,
"gene_symbol": "CEP83",
"hgvs_c": "c.408T>C",
"hgvs_p": "p.Asn136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536726.1",
"strand": false,
"transcript": "XM_011538424.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 701,
"aa_ref": "N",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 873,
"cds_end": null,
"cds_length": 2106,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017019385.3",
"gene_hgnc_id": 17966,
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