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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: 16-15888570-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15888570&ref=C&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": "CEP20",
"hgnc_id": 26435,
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001304499.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.4106,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "16",
"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": 0.7019814252853394,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 174,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 34,
"cds_end": null,
"cds_length": 525,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_144600.4",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255759.11",
"protein_coding": true,
"protein_id": "NP_653201.1",
"strand": false,
"transcript": "NM_144600.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 174,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 34,
"cds_end": null,
"cds_length": 525,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000255759.11",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144600.4",
"protein_coding": true,
"protein_id": "ENSP00000255759.6",
"strand": false,
"transcript": "ENST00000255759.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 234,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 42,
"cds_end": null,
"cds_length": 705,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000929533.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599592.1",
"strand": false,
"transcript": "ENST00000929533.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 225,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": 21,
"cds_end": null,
"cds_length": 678,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000962008.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632067.1",
"strand": false,
"transcript": "ENST00000962008.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 198,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 34,
"cds_end": null,
"cds_length": 597,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001304499.2",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291428.1",
"strand": false,
"transcript": "NM_001304499.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 198,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 646,
"cdna_start": 45,
"cds_end": null,
"cds_length": 597,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000573429.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461830.1",
"strand": false,
"transcript": "ENST00000573429.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 179,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 75,
"cds_end": null,
"cds_length": 540,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000929531.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599590.1",
"strand": false,
"transcript": "ENST00000929531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 36,
"cds_end": null,
"cds_length": 516,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000962007.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632066.1",
"strand": false,
"transcript": "ENST00000962007.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 147,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 50,
"cds_end": null,
"cds_length": 444,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000870039.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540098.1",
"strand": false,
"transcript": "ENST00000870039.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 128,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 34,
"cds_end": null,
"cds_length": 387,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001304502.2",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291431.1",
"strand": false,
"transcript": "NM_001304502.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 128,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 735,
"cdna_start": 30,
"cds_end": null,
"cds_length": 387,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000573396.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461548.1",
"strand": false,
"transcript": "ENST00000573396.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 123,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 381,
"cdna_start": 24,
"cds_end": null,
"cds_length": 373,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000575938.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458348.1",
"strand": false,
"transcript": "ENST00000575938.1",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 108,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 34,
"cds_end": null,
"cds_length": 327,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001304500.2",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291429.1",
"strand": false,
"transcript": "NM_001304500.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 108,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": 34,
"cds_end": null,
"cds_length": 327,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000575744.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459429.1",
"strand": false,
"transcript": "ENST00000575744.5",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 104,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 34,
"cds_end": null,
"cds_length": 315,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001304498.2",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291427.1",
"strand": false,
"transcript": "NM_001304498.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 104,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 530,
"cdna_start": 56,
"cds_end": null,
"cds_length": 315,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000575073.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459804.1",
"strand": false,
"transcript": "ENST00000575073.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 100,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 34,
"cds_end": null,
"cds_length": 303,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001304497.2",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291426.1",
"strand": false,
"transcript": "NM_001304497.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 100,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 33,
"cds_end": null,
"cds_length": 303,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000573968.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460312.1",
"strand": false,
"transcript": "ENST00000573968.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 34,
"aa_ref": "E",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 71,
"cds_end": null,
"cds_length": 105,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000929532.1",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "c.16G>C",
"hgvs_p": "p.Glu6Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599591.1",
"strand": false,
"transcript": "ENST00000929532.1",
"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": 796,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000572415.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "n.16G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460592.1",
"strand": false,
"transcript": "ENST00000572415.5",
"transcript_support_level": 2
},
{
"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": 851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000573087.5",
"gene_hgnc_id": 26435,
"gene_symbol": "CEP20",
"hgvs_c": "n.16G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458159.1",
"strand": false,
"transcript": "ENST00000573087.5",
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}